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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..Hereditary spastic paralysis, infantile onset ascending (C537217)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Arena syndrome (C537428)
..Ataxia, Spastic, 1, Autosomal Dominant (C566993)
..Ataxia, Spastic, 2, Autosomal Recessive (C566969)
..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
..Bahemuka Brown syndrome (C537797)
..Costeff optic atrophy syndrome (C535311) L: 00496;
..Fitzsimmons Walson Mellor syndrome (C537937)
..Fitzsimmons-Guilbert syndrome (C537938)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Hereditary spastic paralysis, infantile onset ascending (C537217)
..Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia (C567311)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..MAST Syndrome (C565409)
..Mental retardation spasticity ectrodactyly (C537446)
..Nakamura Osame syndrome (C538335)
..Roy Maroteaux Kremp syndrome (C535875)
..Spastic diplegia infantile type (C537481)
..Spastic paraplegia 10, autosomal dominant (C537482)
..Spastic paraplegia 11, autosomal recessive (C537483)
..Spastic paraplegia 12, autosomal dominant (C537484)
..Spastic paraplegia 13, autosomal dominant (C537485)
..Spastic paraplegia 14, autosomal recessive (C537486)
..Spastic paraplegia 15, autosomal recessive (C536642)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 17 (C536644)
..Spastic Paraplegia 18, Autosomal Recessive (C567628)
..Spastic paraplegia 19, autosomal dominant (C536856)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic paraplegia 20, autosomal recessive (C536858)
..Spastic paraplegia 23 (C536859)
..Spastic paraplegia 24 (C536860)
..Spastic paraplegia 25, autosomal recessive (C536861)
..Spastic paraplegia 26, autosomal recessive (C536862)
..Spastic Paraplegia 27, Autosomal Recessive (C563807)
..Spastic paraplegia 29, autosomal dominant (C536863)
..Spastic paraplegia 3, autosomal dominant (C536864)
..Spastic Paraplegia 31, Autosomal Dominant (C565210)
..Spastic Paraplegia 32, Autosomal Recessive (C566983)
..Spastic Paraplegia 33, Autosomal Dominant (C565214)
..Spastic Paraplegia 34, X-Linked (C567465)
..SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
..Spastic Paraplegia 36, Autosomal Dominant (C567930)
..Spastic Paraplegia 37, Autosomal Dominant (C567931)
..Spastic Paraplegia 38, Autosomal Dominant (C567349)
..Spastic Paraplegia 39, Autosomal Recessive (C567433)
..Spastic paraplegia 4, autosomal dominant (C536865)
..SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT (OMIM:613364)
..Spastic Paraplegia 42, Autosomal Dominant (C567262)
..SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
..Spastic Paraplegia 44, Autosomal Recessive (C567707)
..SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
..SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
..SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
..SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
..SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
..SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
..SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
..SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
..SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
..SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
..SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
..Spastic Paraplegia 5a, Autosomal Recessive (C564811)
..Spastic paraplegia 6, autosomal dominant (C536866)
..SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
..SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
..SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
..SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
..Spastic Paraplegia 7, Autosomal Recessive (C564599) L: 00497;
..SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
..SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
..SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
..SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
..SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
..SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
..SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
..SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
..Spastic paraplegia 9, autosomal dominant (C536868)
..SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
..Spastic Paraplegia And Evans Syndrome (C566652)
..Spastic paraplegia epilepsy mental retardation (C536869)
..Spastic paraplegia neuropathy poikiloderma (C536870)
..Spastic Paraplegia Type 4 (C580456)
..Spastic paraplegia type 5A, recessive (C536871)
..Spastic paraplegia type 5B, recessive (C536872)
..Spastic Paraplegia Type 7 (C580457)
..Spastic Paraplegia Type 8 (C580458)
..Spastic Paraplegia With Associated Extrapyramidal Signs (C566681)
..Spastic paraplegia with Kallmann syndrome (C536873)
..Spastic Paraplegia With Myoclonic Epilepsy (C564810)
..Spastic paraplegia with precocious puberty (C536874)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Spastic Paraplegia-50, Autosomal Recessive (C567858)
..Volcke Soekarman syndrome (C537718)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

5591

Name:

Hereditary spastic paralysis, infantile onset ascending

Definition:

Alternative IDs:

OMIM:607225

ParentIDs:

MESH:D015419

TreeNumbers:

C10.500.300.820/C537217 |C10.574.500.495.820/C537217 |C10.668.829.800.300.820/C537217 |C16.131.666.300.820/C537217 |C16.320.400.375.820/C537217

Synonyms:

Iahsp |Infantile-Onset Ascending Hereditary Spastic Paralysis |Spastic Paralysis, Infantile Onset Ascending |Spastic Paralysis, Infantile-Onset Ascending

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537217
MeSH: C537217
OMIM: 607225;
MSeqDR :
Genes: ALS2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0002366	Abnormal lower motor neuron morphology
4	HP:0002492	Abnormality of the corticospinal tract	Infantile onset
5	HP:0000478	Abnormality of the eye NAMDC: Ophthalmologic
6	HP:0001771	Achilles tendon contracture
7	HP:0002425	Anarthria
8	HP:0003487	Babinski sign
9	HP:0001260	Dysarthria NAMDC: Dysarthria
10	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11	HP:0005216	Impaired mastication
12	HP:0001270	Motor delay
13	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
14	HP:0001761	Pes cavus
15	HP:0003676	Progressive
16	HP:0002650	Scoliosis
17	HP:0003677	Slow progression
18	HP:0000514	Slow saccadic eye movements
19	HP:0001258	Spastic paraplegia
20	HP:0002510	Spastic tetraplegia
21	HP:0002445	Tetraplegia
22	HP:0000020	Urinary incontinence

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000002.11:g.(?_202566574)_(202633608_?)dup	57679	ALS2	Uncertain significance	-1	RCV003109778;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202566574	202633608		-
NM_020919.4(ALS2):c.4964A>C (p.Lys1655Thr)	57679	ALS2	Conflicting interpretations of pathogenicity	rs199751225	RCV000516809\|RCV002525016\|RCV002527453;	N	MedGen:CN169374\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202566584	202566584	NC_000002.11:g.202566584T>G	ClinGen:CA2057442	CN169374 not specified;
NM_020919.4(ALS2):c.4958G>A (p.Arg1653His)	57679	ALS2	Uncertain significance	rs190606035	RCV000340981\|RCV000392611\|RCV002521362;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202566590	202566590	NC_000002.11:g.202566590C>T	ClinGen:CA2057443	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys)	57679	ALS2	Uncertain significance	rs200416249	RCV001141602\|RCV001141603\|RCV001208992\|RCV002509617;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202566591	202566591	2:g.202566591G>A	-
NM_020919.4(ALS2):c.4938A>G (p.Ala1646=)	57679	ALS2	Likely benign	-1	RCV002206929;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202566610	202566610	202566610	-
NM_020919.4(ALS2):c.4936-1G>C	57679	ALS2	Uncertain significance	-1	RCV002623802;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202566613	202566613	NC_000002.11:g.202566613C>G	-
NM_020919.4(ALS2):c.4935+10G>A	57679	ALS2	Likely benign	-1	RCV002102024;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202568835	202568835	202568835	-
NM_020919.4(ALS2):c.4910A>G (p.Gln1637Arg)	57679	ALS2	Uncertain significance	-1	RCV002044987;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202568870	202568870	202568870	-
NM_020919.4(ALS2):c.4909C>T (p.Gln1637Ter)	57679	ALS2	Uncertain significance	rs1689551469	RCV001352403;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202568871	202568871	202568871	-
NM_020919.4(ALS2):c.4881A>G (p.Leu1627=)	57679	ALS2	Likely benign	-1	RCV002167994;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202568899	202568899	202568899	-
NM_020919.4(ALS2):c.4878T>A (p.Asp1626Glu)	57679	ALS2	Uncertain significance	-1	RCV001986732;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202568902	202568902	202568902	-
NM_020919.4(ALS2):c.4861G>A (p.Val1621Ile)	57679	ALS2	Likely benign	-1	RCV001359223;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202568919	202568919	202568919	-
NM_020919.4(ALS2):c.4858G>A (p.Glu1620Lys)	57679	ALS2	Uncertain significance	rs1559027755	RCV000692382;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202568922	202568922	NC_000002.11:g.202568922C>T	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4854C>T (p.Gly1618=)	57679	ALS2	Likely benign	rs754172366	RCV000868541;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202568926	202568926	2:g.202568926G>A	-
NM_020919.4(ALS2):c.4838+19del	57679	ALS2	Likely benign	-1	RCV002125316;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569158	202569158	202569157	-
NM_020919.4(ALS2):c.4838+13T>C	57679	ALS2	Likely benign	-1	RCV002163144;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569164	202569164	202569164	-
NM_020919.4(ALS2):c.4838+10T>C	57679	ALS2	Likely benign	-1	RCV002648003;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569167	202569167	NC_000002.11:g.202569167A>G	-
NM_020919.4(ALS2):c.4838+1del	57679	ALS2	Likely pathogenic	rs1167814155	RCV001218439;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569176	202569176	2:g.202569176_202569176del	-
NM_020919.4(ALS2):c.4837A>T (p.Arg1613Trp)	57679	ALS2	Uncertain significance	rs1689578448	RCV001064769;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569178	202569178	2:g.202569178T>A	-
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln)	57679	ALS2	Conflicting interpretations of pathogenicity	-1	RCV001391374;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569183	202569183	202569183	-
NM_020919.4(ALS2):c.4832G>C (p.Arg1611Pro)	57679	ALS2	Uncertain significance	-1	RCV002705848;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569183	202569183	NC_000002.11:g.202569183C>G	-
NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe)	57679	ALS2	Uncertain significance	-1	RCV001848506\|RCV002543408;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569195	202569195	202569195	-
NM_020919.4(ALS2):c.4817T>C (p.Leu1606Ser)	57679	ALS2	Uncertain significance	-1	RCV002588645;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569198	202569198	NC_000002.11:g.202569198A>G	-
NM_020919.4(ALS2):c.4773C>T (p.His1591=)	57679	ALS2	Likely benign	rs369015911	RCV000936790;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569242	202569242	2:g.202569242G>A	-
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=)	57679	ALS2	Benign/Likely benign	rs35110478	RCV000230667\|RCV000518222\|RCV001141604\|RCV001141605\|RCV001596997\|RCV001848006;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169374\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202569251	202569251	NC_000002.11:g.202569251C>T	ClinGen:CA2057484	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4764G>C (p.Ala1588=)	57679	ALS2	Likely benign	-1	RCV001489572;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569251	202569251	202569251	-
NM_020919.4(ALS2):c.4763C>T (p.Ala1588Val)	57679	ALS2	Uncertain significance	rs540726634	RCV001052966;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569252	202569252	2:g.202569252G>A	-
NM_020919.4(ALS2):c.4761G>A (p.Leu1587_Ala1588=)	57679	ALS2	Likely benign	-1	RCV002711003;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569254	202569254	NC_000002.11:g.202569254C>T	-
NM_020919.4(ALS2):c.4751A>T (p.Gln1584Leu)	57679	ALS2	Uncertain significance	-1	RCV002591485;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569264	202569264	NC_000002.11:g.202569264T>A	-
NM_020919.4(ALS2):c.4733C>T (p.Thr1578Ile)	57679	ALS2	Uncertain significance	rs1411563415	RCV001062208;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569282	202569282	2:g.202569282G>A	-
NM_020919.4(ALS2):c.4725C>T (p.Ile1575=)	57679	ALS2	Likely benign	-1	RCV002200021;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569290	202569290	202569290	-
NM_020919.4(ALS2):c.4721del (p.Val1574fs)	57679	ALS2	Pathogenic	rs386134188	RCV000004662;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569294	202569294	2:g.202569294_202569294del	ClinGen:CA340247,OMIM:606352.0009	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4708G>C (p.Asp1570His)	57679	ALS2	Uncertain significance	-1	RCV003023813;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569307	202569307	NC_000002.11:g.202569307C>G	-
NM_020919.4(ALS2):c.4689-10T>C	57679	ALS2	Likely benign	-1	RCV002110451;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569336	202569336	202569336	-
NM_020919.4(ALS2):c.4688+15G>A	57679	ALS2	Likely benign	-1	RCV002095157;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569847	202569847	202569847	-
NM_020919.4(ALS2):c.4641G>A (p.Thr1547=)	57679	ALS2	Likely benign	rs759206593	RCV000862840\|RCV001461182;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569909	202569909	2:g.202569909C>T	-
NM_020919.4(ALS2):c.4640C>T (p.Thr1547Met)	57679	ALS2	Uncertain significance	rs1472406927	RCV001059532;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569910	202569910	2:g.202569910G>A	-
NM_020919.4(ALS2):c.4636A>G (p.Thr1546Ala)	57679	ALS2	Uncertain significance	-1	RCV001901330;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569914	202569914	202569914	-
NM_020919.4(ALS2):c.4627G>T (p.Val1543Phe)	57679	ALS2	Uncertain significance	rs760222980	RCV000793363;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569923	202569923	2:g.202569923C>A	-
NM_020919.4(ALS2):c.4627-4G>A	57679	ALS2	Conflicting interpretations of pathogenicity	rs765859367	RCV001143424\|RCV001143425\|RCV002557055;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569927	202569927	2:g.202569927C>T	-
NM_020919.4(ALS2):c.4627-5T>C	57679	ALS2	Likely benign	rs764322790	RCV000554259;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569928	202569928	NC_000002.11:g.202569928A>G	ClinGen:CA2057511	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4627-69T>A	57679	ALS2	Benign	-1	RCV001549125\|RCV001549124\|RCV001549126\|RCV001713030;	N	MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202569992	202569992	202569992	-
NM_020919.4(ALS2):c.4626+10A>G	57679	ALS2	Likely benign	-1	RCV001450586;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202570129	202570129	202570129	-
NM_020919.4(ALS2):c.4626+6G>A	57679	ALS2	Uncertain significance	-1	RCV001904025;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202570133	202570133	202570133	-
NM_020919.4(ALS2):c.4596A>G (p.Ala1532_Thr1533=)	57679	ALS2	Likely benign	-1	RCV002938957;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202570169	202570169	NC_000002.11:g.202570169T>C	-
NM_020919.4(ALS2):c.4591C>G (p.Pro1531Ala)	57679	ALS2	Uncertain significance	-1	RCV002886429;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202570174	202570174	NC_000002.11:g.202570174G>C	-
NM_020919.4(ALS2):c.4581-3T>C	57679	ALS2	Uncertain significance	-1	RCV002038349;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202570187	202570187	202570187	-
NM_020919.4(ALS2):c.4581-7A>G	57679	ALS2	Benign/Likely benign	rs114458388	RCV000310484\|RCV000365254\|RCV000861830\|RCV001660693\|RCV001571615;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169374\|MedGen:CN517202	2	202570191	202570191	NC_000002.11:g.202570191T>C	ClinGen:CA2057531	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4581-16A>G	57679	ALS2	Likely benign	-1	RCV002078593;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202570200	202570200	202570200	-
NM_020919.4(ALS2):c.4581-48T>C	57679	ALS2	Benign	rs3219170	RCV000247168\|RCV001549260\|RCV001549259\|RCV001549261\|RCV001711575;	N	MedGen:CN169374\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202570232	202570232	2:g.202570232A>G	ClinGen:CA2057543	CN169374 not specified;
NC_000002.11:g.(?_202571549)_(202571765_?)del	57679	ALS2	Uncertain significance	-1	RCV003109777;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571549	202571765		-
NM_020919.4(ALS2):c.4580+17C>T	57679	ALS2	Likely benign	-1	RCV002168656;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571552	202571552	202571552	-
NM_020919.4(ALS2):c.4580+17C>A	57679	ALS2	Likely benign	-1	RCV003052610;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571552	202571552	NC_000002.11:g.202571552G>T	-
NM_020919.4(ALS2):c.4580+11T>C	57679	ALS2	Likely benign	-1	RCV002613165;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571558	202571558	NC_000002.11:g.202571558A>G	-
NM_020919.4(ALS2):c.4580+7G>A	57679	ALS2	Benign	rs3219169	RCV000242163\|RCV000306834\|RCV000391745\|RCV001509590\|RCV001549262\|RCV001660346;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MedGen:CN517202	2	202571562	202571562	2:g.202571562C>T	ClinGen:CA2057550	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4573dup (p.Val1525fs)	57679	ALS2	Pathogenic/Likely pathogenic	rs730882256	RCV000162072\|RCV001089474;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571575	202571576	NC_000002.11:g.202571579dup	ClinGen:CA273789,OMIM:606352.0017	C1859807 205100 Amyotrophic lateral sclerosis type 2;
NM_020919.4(ALS2):c.4567C>T (p.Leu1523Phe)	57679	ALS2	Uncertain significance	-1	RCV003108836;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571582	202571582	NC_000002.11:g.202571582G>A	-
NM_020919.4(ALS2):c.4566T>C (p.Phe1522=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs1214757167	RCV001143426\|RCV001143427\|RCV002070726;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571583	202571583	2:g.202571583A>G	-
NM_020919.4(ALS2):c.4544_4547dup (p.Ile1517fs)	57679	ALS2	Pathogenic	rs1337097412	RCV001232129;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571601	202571602	2:g.202571601_202571602insTCTG	-
NM_020919.4(ALS2):c.4536T>G (p.Asn1512Lys)	57679	ALS2	Uncertain significance	-1	RCV002907634;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571613	202571613	NC_000002.11:g.202571613A>C	-
NM_020919.4(ALS2):c.4528C>T (p.Arg1510Ter)	57679	ALS2	Pathogenic	-1	RCV001992862;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571621	202571621	202571621	-
NM_020919.4(ALS2):c.4507A>G (p.Ile1503Val)	57679	ALS2	Uncertain significance	-1	RCV001906072;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571642	202571642	202571642	-
NM_020919.4(ALS2):c.4498G>A (p.Glu1500Lys)	57679	ALS2	Uncertain significance	rs780151065	RCV000232857;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571651	202571651	NC_000002.11:g.202571651C>T	ClinGen:CA2057558	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys)	57679	ALS2	Uncertain significance	rs112869526	RCV000505894\|RCV000820889\|RCV001848876;	N	MedGen:CN169374\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202571654	202571654	NC_000002.11:g.202571654G>A	ClinGen:CA2057560	CN169374 not specified;
NM_020919.4(ALS2):c.4478A>C (p.Tyr1493Ser)	57679	ALS2	Uncertain significance	rs1689754943	RCV001319743;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571671	202571671	202571671	-
NM_020919.4(ALS2):c.4464G>A (p.Pro1488_Leu1489=)	57679	ALS2	Likely benign	-1	RCV003015406;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571685	202571685	NC_000002.11:g.202571685C>T	-
NM_020919.4(ALS2):c.4451G>A (p.Arg1484Gln)	57679	ALS2	Uncertain significance	rs772543276	RCV000416251\|RCV001861458;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571698	202571698	NC_000002.11:g.202571698C>T	ClinGen:CA2057563	CN517202 not provided;
NM_020919.4(ALS2):c.4436C>G (p.Pro1479Arg)	57679	ALS2	Uncertain significance	rs769600851	RCV001052543;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571713	202571713	2:g.202571713G>C	-
NM_020919.4(ALS2):c.4435C>T (p.Pro1479Ser)	57679	ALS2	Uncertain significance	rs534239794	RCV000701598;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571714	202571714	NC_000002.11:g.202571714G>A	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4425A>G (p.Gly1475_Leu1476=)	57679	ALS2	Likely benign	-1	RCV002852342;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571724	202571724	NC_000002.11:g.202571724T>C	-
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs200202953	RCV000276464\|RCV000370877\|RCV000862055\|RCV001289226\|RCV001571366;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169374\|MedGen:CN517202	2	202571733	202571733	NC_000002.11:g.202571733C>T	ClinGen:CA2057570	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met)	57679	ALS2	Uncertain significance	rs201089588	RCV000803341\|RCV001136863\|RCV001136862;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202571734	202571734	2:g.202571734G>A	-
NM_020919.4(ALS2):c.4407T>C (p.Tyr1469_Val1470=)	57679	ALS2	Benign	-1	RCV002966785;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571742	202571742	NC_000002.11:g.202571742A>G	-
NM_020919.4(ALS2):c.4404-5T>C	57679	ALS2	Likely benign	-1	RCV003114889;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571750	202571750	NC_000002.11:g.202571750A>G	-
NM_020919.4(ALS2):c.4404-17A>G	57679	ALS2	Likely benign	-1	RCV002111335;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571762	202571762	202571762	-
NM_020919.4(ALS2):c.4404-18C>T	57679	ALS2	Benign	-1	RCV002188339;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571763	202571763	202571763	-
NM_020919.4(ALS2):c.4403+17G>A	57679	ALS2	Likely benign	-1	RCV002102502;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572575	202572575	202572575	-
NM_020919.4(ALS2):c.4403+15del	57679	ALS2	Likely benign	-1	RCV001952712;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572577	202572577	202572576	-
NM_020919.4(ALS2):c.4403+9A>G	57679	ALS2	Likely benign	-1	RCV002638501;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572583	202572583	NC_000002.11:g.202572583T>C	-
NM_020919.4(ALS2):c.4399C>G (p.Pro1467Ala)	57679	ALS2	Uncertain significance	-1	RCV001900553;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572596	202572596	202572596	-
NM_020919.4(ALS2):c.4396G>A (p.Glu1466Lys)	57679	ALS2	Uncertain significance	-1	RCV002651005;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572599	202572599	NC_000002.11:g.202572599C>T	-
NM_020919.4(ALS2):c.4382G>A (p.Arg1461Gln)	57679	ALS2	Uncertain significance	-1	RCV001893196\|RCV003136264;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202572613	202572613	202572613	-
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)	57679	ALS2	Pathogenic	rs374047961	RCV001095479\|RCV001391373;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572614	202572614	2:g.202572614G>A	-
NM_020919.4(ALS2):c.4368G>A (p.Gly1456=)	57679	ALS2	Likely benign	-1	RCV001477717;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572627	202572627	202572627	-
NM_020919.4(ALS2):c.4368del (p.Lys1457fs)	57679	ALS2	Pathogenic	-1	RCV001960666;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572627	202572627	202572626	-
NM_020919.4(ALS2):c.4365T>G (p.Thr1455=)	57679	ALS2	Likely benign	-1	RCV001428198;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572630	202572630	202572630	-
NM_020919.4(ALS2):c.4363A>G (p.Thr1455Ala)	57679	ALS2	Uncertain significance	-1	RCV003069296;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572632	202572632	NC_000002.11:g.202572632T>C	-
NM_020919.4(ALS2):c.4345G>A (p.Glu1449Lys)	57679	ALS2	Uncertain significance	rs779841299	RCV000699373;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572650	202572650	NC_000002.11:g.202572650C>T	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4333C>G (p.Pro1445Ala)	57679	ALS2	Uncertain significance	rs1559032116	RCV001338661;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572662	202572662	202572662	-
NM_020919.4(ALS2):c.4332T>A (p.Ala1444=)	57679	ALS2	Likely benign	-1	RCV002173347;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572663	202572663	202572663	-
NM_020919.4(ALS2):c.4317A>C (p.Thr1439=)	57679	ALS2	Likely benign	-1	RCV002007046;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572678	202572678	202572678	-
NM_020919.4(ALS2):c.4305A>C (p.Glu1435Asp)	57679	ALS2	Uncertain significance	-1	RCV002982317;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572690	202572690	NC_000002.11:g.202572690T>G	-
NM_020919.4(ALS2):c.4281G>T (p.Arg1427Ser)	57679	ALS2	Uncertain significance	-1	RCV001926088;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572714	202572714	202572714	-
NM_020919.4(ALS2):c.4281G>A (p.Arg1427_Phe1428=)	57679	ALS2	Uncertain significance	-1	RCV002717332;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572714	202572714	NC_000002.11:g.202572714C>T	-
NM_020919.4(ALS2):c.4280+16A>G	57679	ALS2	Benign	-1	RCV002173732;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574588	202574588	202574588	-
NM_020919.4(ALS2):c.4280+15C>T	57679	ALS2	Likely benign	-1	RCV002125342;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574589	202574589	202574589	-
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter)	57679	ALS2	Pathogenic	-1	RCV002227850\|RCV002259411;	N	MONDO:MONDO:0017593,MedGen:C3468114, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574614	202574614	202574614	-
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)	57679	ALS2	Likely pathogenic	rs863225293	RCV000986979\|RCV002500830;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:2931	2	202574623	202574623	NC_000002.11:g.202574623G>A	ClinVar:217879	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4243A>G (p.Ile1415Val)	57679	ALS2	Uncertain significance	-1	RCV002993903;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574641	202574641	NC_000002.11:g.202574641T>C	-
NM_020919.4(ALS2):c.4224G>A (p.Leu1408_Gln1409=)	57679	ALS2	Likely benign	-1	RCV002900374;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574660	202574660	NC_000002.11:g.202574660C>T	-
NM_020919.4(ALS2):c.4214G>A (p.Arg1405His)	57679	ALS2	Uncertain significance	-1	RCV001911441;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574670	202574670	202574670	-
NM_020919.4(ALS2):c.4213C>T (p.Arg1405Cys)	57679	ALS2	Uncertain significance	-1	RCV002048524\|RCV002548823;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202574671	202574671	202574671	-
NM_020919.4(ALS2):c.4201G>A (p.Val1401Ile)	57679	ALS2	Uncertain significance	-1	RCV003100324;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574683	202574683	NC_000002.11:g.202574683C>T	-
NM_020919.4(ALS2):c.4200C>T (p.Gly1400=)	57679	ALS2	Likely benign	rs376976879	RCV002547224;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574684	202574684	2:g.202574684G>A	-
NM_020919.4(ALS2):c.4195G>A (p.Val1399Met)	57679	ALS2	Uncertain significance	-1	RCV001890474;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574689	202574689	202574689	-
NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=)	57679	ALS2	Conflicting interpretations of pathogenicity	-1	RCV001409881\|RCV001847264;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202574690	202574690	202574690	-
NM_020919.4(ALS2):c.4191A>T (p.Thr1397_Tyr1398=)	57679	ALS2	Likely benign	-1	RCV002751009;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574693	202574693	NC_000002.11:g.202574693T>A	-
NM_020919.4(ALS2):c.4181A>G (p.Tyr1394Cys)	57679	ALS2	Uncertain significance	-1	RCV003027305;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574703	202574703	NC_000002.11:g.202574703T>C	-
NM_020919.4(ALS2):c.4177G>A (p.Val1393Met)	57679	ALS2	Uncertain significance	rs757128191	RCV001322185;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574707	202574707	202574707	-
NM_020919.4(ALS2):c.4164G>A (p.Glu1388=)	57679	ALS2	Likely benign	-1	RCV001400075;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574720	202574720	202574720	-
NM_020919.4(ALS2):c.4150G>A (p.Gly1384Ser)	57679	ALS2	Uncertain significance	-1	RCV002904238;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574734	202574734	NC_000002.11:g.202574734C>T	-
NM_020919.4(ALS2):c.4146C>G (p.Pro1382=)	57679	ALS2	Likely benign	-1	RCV001396547;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574738	202574738	202574738	-
NM_020919.4(ALS2):c.4145C>T (p.Pro1382Leu)	57679	ALS2	Uncertain significance	rs377174814	RCV001206296;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574739	202574739	2:g.202574739G>A	-
NM_020919.4(ALS2):c.4141C>T (p.His1381Tyr)	57679	ALS2	Uncertain significance	rs1574665478	RCV000817297;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574743	202574743	2:g.202574743G>A	-
NM_020919.4(ALS2):c.4131C>T (p.Asp1377=)	57679	ALS2	Likely benign	-1	RCV002124013;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574753	202574753	202574753	-
NM_020919.4(ALS2):c.4123-14C>G	57679	ALS2	Likely benign	-1	RCV002972021;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574775	202574775	NC_000002.11:g.202574775G>C	-
NM_020919.4(ALS2):c.4123-19T>C	57679	ALS2	Likely benign	-1	RCV002586555;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574780	202574780	NC_000002.11:g.202574780A>G	-
NM_020919.4(ALS2):c.4123-20T>C	57679	ALS2	Benign	-1	RCV002100872;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202574781	202574781	202574781	-
NM_020919.4(ALS2):c.4123-64G>A	57679	ALS2	Benign	-1	RCV001549263\|RCV001549264\|RCV001549265\|RCV001673194;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202574825	202574825	202574825	-
NM_020919.4(ALS2):c.4122+12T>C	57679	ALS2	Likely benign	-1	RCV003067895;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202575702	202575702	NC_000002.11:g.202575702A>G	-
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)	57679	ALS2	Conflicting interpretations of pathogenicity	rs61757691	RCV000277866\|RCV000323025\|RCV000377762\|RCV000539511\|RCV001084529\|RCV001848051;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202575717	202575717	2:g.202575717T>C	ClinGen:CA2057670	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4107G>A (p.Arg1369=)	57679	ALS2	Likely benign	-1	RCV001451521;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202575729	202575729	202575729	-
NM_020919.4(ALS2):c.4037C>G (p.Thr1346Arg)	57679	ALS2	Uncertain significance	-1	RCV001898688;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202575799	202575799	202575799	-
NM_020919.4(ALS2):c.4022G>T (p.Arg1341Leu)	57679	ALS2	Uncertain significance	rs761291489	RCV001349548;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202575814	202575814	202575814	-
NM_020919.4(ALS2):c.4021C>T (p.Arg1341Cys)	57679	ALS2	Uncertain significance	rs771371026	RCV000456215;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202575815	202575815	NC_000002.11:g.202575815G>A	ClinGen:CA2057683	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)	57679	ALS2	Benign	rs3219168	RCV000250217\|RCV000283291\|RCV000347093\|RCV000710524\|RCV001509591\|RCV001549266;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604	2	202575821	202575821	2:g.202575821G>A	ClinGen:CA2057684	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4004+25C>T	57679	ALS2	Benign	rs3219167	RCV000254072\|RCV001549269\|RCV001549267\|RCV001549268\|RCV001651241;	N	MedGen:CN169374\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MedGen:CN517202	2	202580370	202580370	2:g.202580370G>A	ClinGen:CA2057701	CN169374 not specified;
NM_020919.4(ALS2):c.4004+18C>T	57679	ALS2	Likely benign	-1	RCV002124498;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580377	202580377	202580377	-
NM_020919.4(ALS2):c.4004+11A>C	57679	ALS2	Likely benign	-1	RCV002168390;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580384	202580384	202580384	-
NM_020919.4(ALS2):c.4004+6T>A	57679	ALS2	Uncertain significance	rs1553502811	RCV000524821;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580389	202580389	NC_000002.11:g.202580389A>T	ClinGen:CA658657199	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4004+1G>A	57679	ALS2	Likely pathogenic	-1	RCV001379780;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580394	202580394	202580394	-
NM_020919.4(ALS2):c.3989G>A (p.Arg1330His)	57679	ALS2	Uncertain significance	-1	RCV001986769;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580410	202580410	202580410	-
NM_020919.4(ALS2):c.3986G>A (p.Arg1329Gln)	57679	ALS2	Uncertain significance	-1	RCV001992287;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580413	202580413	202580413	-
NM_020919.4(ALS2):c.3985C>T (p.Arg1329Trp)	57679	ALS2	Uncertain significance	-1	RCV002015677;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580414	202580414	202580414	-
NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn)	57679	ALS2	Uncertain significance	rs1242751535	RCV001139098\|RCV001139099\|RCV001856786;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580416	202580416	2:g.202580416C>T	-
NM_020919.4(ALS2):c.3956A>G (p.Asp1319Gly)	57679	ALS2	Uncertain significance	rs757425560	RCV001066043;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580443	202580443	2:g.202580443T>C	-
NM_020919.4(ALS2):c.3905G>A (p.Arg1302His)	57679	ALS2	Likely benign	rs199577696	RCV000862275\|RCV001141706\|RCV001141707;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202580494	202580494	2:g.202580494C>T	-
NM_020919.4(ALS2):c.3904C>T (p.Arg1302Cys)	57679	ALS2	Uncertain significance	-1	RCV002005791;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580495	202580495	202580495	-
NM_020919.4(ALS2):c.3900_3902del (p.Cys1300del)	57679	ALS2	Uncertain significance	-1	RCV002819805;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580497	202580499	NC_000002.11:g.202580499_202580501del	-
NM_020919.4(ALS2):c.3894C>T (p.Asp1298=)	57679	ALS2	Likely benign	-1	RCV002138655;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580505	202580505	202580505	-
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=)	57679	ALS2	Benign	rs34946105	RCV000250738\|RCV000344027\|RCV000398431\|RCV000465089\|RCV001636813\|RCV001848040;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202580514	202580514	2:g.202580514C>T	ClinGen:CA2057732	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.3884C>T (p.Ala1295Val)	57679	ALS2	Uncertain significance	-1	RCV003067150;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580515	202580515	NC_000002.11:g.202580515G>A	-
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs200417604	RCV000313623\|RCV000368212\|RCV000863516;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580523	202580523	NC_000002.11:g.202580523C>T	ClinGen:CA2057735	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.3872A>G (p.Glu1291Gly)	57679	ALS2	Likely benign	-1	RCV001374257;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580527	202580527	202580527	-
NM_020919.4(ALS2):c.3870T>C (p.Asp1290_Glu1291=)	57679	ALS2	Likely benign	-1	RCV002953466;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580529	202580529	NC_000002.11:g.202580529A>G	-
NM_020919.4(ALS2):c.3860_3865del (p.Val1287_Pro1288del)	57679	ALS2	Uncertain significance	rs759145161	RCV000704618;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580534	202580539	NC_000002.11:g.202580537_202580542del	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu)	57679	ALS2	Uncertain significance	rs376835062	RCV000640987\|RCV001143529\|RCV001143530\|RCV002222571\|RCV002473084;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN169374\|MedGen:CN517202	2	202580536	202580536	NC_000002.11:g.202580536G>A	ClinGen:CA2057740	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3858A>G (p.Ala1286=)	57679	ALS2	Likely benign	rs777272990	RCV000874500\|RCV001434901;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580541	202580541	2:g.202580541T>C	-
NM_020919.4(ALS2):c.3837-15A>G	57679	ALS2	Likely benign	-1	RCV001925961;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580577	202580577	202580577	-
NM_020919.4(ALS2):c.3836+18A>C	57679	ALS2	Likely benign	-1	RCV002123450;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582782	202582782	202582782	-
NM_020919.4(ALS2):c.3836+14G>A	57679	ALS2	Likely benign	-1	RCV002141397;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582786	202582786	202582786	-
NM_020919.4(ALS2):c.3836+3G>A	57679	ALS2	Uncertain significance	-1	RCV002000409;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582797	202582797	202582797	-
NM_020919.4(ALS2):c.3831A>G (p.Lys1277_Val1278=)	57679	ALS2	Likely benign	-1	RCV002972479;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582805	202582805	NC_000002.11:g.202582805T>C	-
NM_020919.4(ALS2):c.3829A>T (p.Lys1277Ter)	57679	ALS2	Pathogenic	-1	RCV002471488;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582807	202582807	NC_000002.11:g.202582807T>A	-
NM_020919.4(ALS2):c.3816T>C (p.Asp1272_Lys1273=)	57679	ALS2	Likely benign	-1	RCV003011976;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582820	202582820	NC_000002.11:g.202582820A>G	-
NM_020919.4(ALS2):c.3814G>A (p.Asp1272Asn)	57679	ALS2	Uncertain significance	-1	RCV003069220;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582822	202582822	NC_000002.11:g.202582822C>T	-
NM_020919.4(ALS2):c.3809A>G (p.Glu1270Gly)	57679	ALS2	Uncertain significance	rs891714775	RCV001045715;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582827	202582827	2:g.202582827T>C	-
NM_020919.4(ALS2):c.3808G>A (p.Glu1270Lys)	57679	ALS2	Uncertain significance	-1	RCV003112612;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582828	202582828	NC_000002.11:g.202582828C>T	-
NM_020919.4(ALS2):c.3797C>G (p.Pro1266Arg)	57679	ALS2	Uncertain significance	-1	RCV002999154;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582839	202582839	NC_000002.11:g.202582839G>C	-
NM_020919.4(ALS2):c.3785C>T (p.Thr1262Ile)	57679	ALS2	Uncertain significance	rs1553503506	RCV000640991;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582851	202582851	NC_000002.11:g.202582851G>A	ClinGen:CA350317961	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser)	57679	ALS2	Uncertain significance	rs551822626	RCV000466171\|RCV000515900\|RCV001653833;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:CN517202	2	202582890	202582890	NC_000002.11:g.202582890A>G	ClinGen:CA2057764	C0037773 Hereditary spastic paraplegia;
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs3219166	RCV000473535\|RCV001143531\|RCV001143532\|RCV001531945\|RCV001662448\|RCV001848840;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202582895	202582895	NC_000002.11:g.202582895A>C	ClinGen:CA2057766	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3721A>C (p.Asn1241His)	57679	ALS2	Uncertain significance	rs774125951	RCV001201853;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582915	202582915	2:g.202582915T>G	-
NM_020919.4(ALS2):c.3711G>A (p.Leu1237=)	57679	ALS2	Likely benign	-1	RCV002087319;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582925	202582925	202582925	-
NM_020919.4(ALS2):c.3703-2A>G	57679	ALS2	Likely pathogenic	-1	RCV001995649;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582935	202582935	202582935	-
NM_020919.4(ALS2):c.3703-6A>T	57679	ALS2	Likely benign	-1	RCV002113838;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582939	202582939	202582939	-
NM_020919.4(ALS2):c.3703-14C>G	57679	ALS2	Likely benign	-1	RCV002650602;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582947	202582947	NC_000002.11:g.202582947G>C	-
NM_020919.4(ALS2):c.3703-16C>T	57679	ALS2	Likely benign	-1	RCV002667049;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202582949	202582949	NC_000002.11:g.202582949G>A	-
NM_020919.4(ALS2):c.3702+17_3702+20del	57679	ALS2	Likely benign	-1	RCV002098106;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587746	202587749	202587745	-
NM_020919.4(ALS2):c.3702+20T>G	57679	ALS2	Likely benign	-1	RCV002219349;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587746	202587746	202587746	-
NC_000002.11:g.(?_202587756)_(202589192_?)del	57679	ALS2	Pathogenic	-1	RCV001951369;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587756	202589192	-1	-
NM_020919.4(ALS2):c.3699A>G (p.Gly1233=)	57679	ALS2	Likely benign	-1	RCV002158134;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587769	202587769	202587769	-
NM_020919.4(ALS2):c.3692T>A (p.Leu1231His)	57679	ALS2	Uncertain significance	-1	RCV003072638;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587776	202587776	NC_000002.11:g.202587776A>T	-
NM_020919.4(ALS2):c.3666A>T (p.Glu1222Asp)	57679	ALS2	Uncertain significance	-1	RCV003092019;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587802	202587802	NC_000002.11:g.202587802T>A	-
NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val)	57679	ALS2	Uncertain significance	rs370591665	RCV001143533\|RCV001143534\|RCV001858942;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587810	202587810	2:g.202587810T>C	-
NM_020919.4(ALS2):c.3656C>A (p.Thr1219Asn)	57679	ALS2	Uncertain significance	-1	RCV001972928\|RCV002571250;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202587812	202587812	202587812	-
NM_020919.4(ALS2):c.3653A>G (p.Asp1218Gly)	57679	ALS2	Uncertain significance	-1	RCV002038577;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587815	202587815	202587815	-
NM_020919.4(ALS2):c.3645C>T (p.Ser1215_Glu1216=)	57679	ALS2	Likely benign	-1	RCV002943502;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587823	202587823	NC_000002.11:g.202587823G>A	-
NM_020919.4(ALS2):c.3625-5T>C	57679	ALS2	Likely benign	-1	RCV002100204;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587848	202587848	202587848	-
NM_020919.4(ALS2):c.3625-16_3625-15del	57679	ALS2	Benign/Likely benign	rs370628135	RCV000301154\|RCV000407533\|RCV001549975\|RCV002057637;	N	MedGen:CN239196\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587858	202587859	NC_000002.11:g.202587858_202587859del	ClinGen:CA2057810	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.3624+14_3624+21del	57679	ALS2	Likely benign	-1	RCV002834550;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588032	202588039	NC_000002.11:g.202588033_202588040del	-
NM_020919.4(ALS2):c.3624+10A>G	57679	ALS2	Likely benign	-1	RCV002968105;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588043	202588043	NC_000002.11:g.202588043T>C	-
NM_020919.4(ALS2):c.3624+6T>C	57679	ALS2	Uncertain significance	-1	RCV002003958;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588047	202588047	202588047	-
NM_020919.4(ALS2):c.3624+3G>C	57679	ALS2	Uncertain significance	-1	RCV001949099;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588050	202588050	202588050	-
NM_020919.4(ALS2):c.3624+1G>A	57679	ALS2	Likely pathogenic	-1	RCV001377565\|RCV003106223;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803	2	202588052	202588052	202588052	-
NM_020919.4(ALS2):c.3622A>T (p.Met1208Leu)	57679	ALS2	Uncertain significance	rs753470319	RCV000807997;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588055	202588055	2:g.202588055T>A	-
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer)	57679	ALS2	Pathogenic	rs386134187	RCV000004658;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588058	202588058	NC_000002.11:g.202588061del	ClinGen:CA340241,OMIM:606352.0005	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3617A>C (p.Lys1206Thr)	57679	ALS2	Uncertain significance	-1	RCV001969723;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588060	202588060	202588060	-
NM_020919.4(ALS2):c.3616A>G (p.Lys1206Glu)	57679	ALS2	Uncertain significance	rs1271344719	RCV001319256;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588061	202588061	202588061	-
NM_020919.4(ALS2):c.3602A>C (p.Asn1201Thr)	57679	ALS2	Uncertain significance	-1	RCV002626619;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588075	202588075	NC_000002.11:g.202588075T>G	-
NM_020919.4(ALS2):c.3594C>T (p.Tyr1198=)	57679	ALS2	Likely benign	rs781454879	RCV001311977\|RCV002543585;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588083	202588083	202588083	-
NM_020919.4(ALS2):c.3584G>T (p.Gly1195Val)	57679	ALS2	Uncertain significance	-1	RCV002018400;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588093	202588093	202588093	-
NM_020919.4(ALS2):c.3564T>C (p.Gly1188=)	57679	ALS2	Likely benign	-1	RCV002213678;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588113	202588113	202588113	-
NM_020919.4(ALS2):c.3558G>A (p.Gly1186=)	57679	ALS2	Likely benign	rs1160534998	RCV000933174\|RCV001425675;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588119	202588119	2:g.202588119C>T	-
NM_020919.4(ALS2):c.3547G>A (p.Val1183Met)	57679	ALS2	Uncertain significance	rs762235200	RCV001055843;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588130	202588130	2:g.202588130C>T	-
NM_020919.4(ALS2):c.3534G>C (p.Met1178Ile)	57679	ALS2	Uncertain significance	-1	RCV002609289;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588143	202588143	NC_000002.11:g.202588143C>G	-
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)	57679	ALS2	Pathogenic	rs757972700	RCV000800103\|RCV001375960\|RCV002051896;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202	2	202588157	202588157	2:g.202588157T>A	-
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys)	57679	ALS2	Benign/Likely benign	rs41309046	RCV000206059\|RCV000516738\|RCV001143535\|RCV001594874\|RCV001847937;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169374\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202588160	202588160	NC_000002.11:g.202588160C>T	ClinGen:CA350120	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3517delG	57679	ALS2	Pathogenic	-1	RCV002259433;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588160	202588160	202588159	-
NM_020919.4(ALS2):c.3516_3517delinsT (p.Glu1173fs)	57679	ALS2	Likely pathogenic	-1	RCV002508856;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588160	202588161	NC_000002.11:g.202588160_202588161delinsA	-
NM_020919.4(ALS2):c.3513-1G>A	57679	ALS2	Pathogenic	-1	RCV001391372;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588165	202588165	202588165	-
NM_020919.4(ALS2):c.3513-7T>A	57679	ALS2	Uncertain significance	-1	RCV001912465;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588171	202588171	202588171	-
NM_020919.4(ALS2):c.3512+19A>G	57679	ALS2	Likely benign	-1	RCV002780655;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202588999	202588999	NC_000002.11:g.202588999T>C	-
NM_020919.4(ALS2):c.3512+13_3512+15del	57679	ALS2	Likely benign	-1	RCV002084720;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589003	202589005	202589002	-
NM_020919.4(ALS2):c.3512+8A>G	57679	ALS2	Likely benign	-1	RCV002917686;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589010	202589010	NC_000002.11:g.202589010T>C	-
NM_020919.4(ALS2):c.3512+6G>A	57679	ALS2	Uncertain significance	-1	RCV003032941;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589012	202589012	NC_000002.11:g.202589012C>T	-
NM_020919.4(ALS2):c.3486A>C (p.Gly1162=)	57679	ALS2	Likely benign	rs41309044	RCV000640995;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589044	202589044	NC_000002.11:g.202589044T>G	ClinGen:CA2057872	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3466G>C (p.Val1156Leu)	57679	ALS2	Likely benign	rs191150274	RCV000869719\|RCV001479936;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589064	202589064	2:g.202589064C>G	-
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=)	57679	ALS2	Benign/Likely benign	rs556027390	RCV000867659\|RCV001136959\|RCV001143536;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202589068	202589068	2:g.202589068C>T	-
NM_020919.4(ALS2):c.3449T>A (p.Met1150Lys)	57679	ALS2	Uncertain significance	rs747308306	RCV000701693;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589081	202589081	NC_000002.11:g.202589081A>T	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3447T>C (p.Ser1149=)	57679	ALS2	Likely benign	-1	RCV001442904;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589083	202589083	202589083	-
NM_020919.4(ALS2):c.3442_3444del (p.Pro1148del)	57679	ALS2	Uncertain significance	-1	RCV001877708;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589086	202589088	202589085	-
NM_020919.4(ALS2):c.3442C>T (p.Pro1148Ser)	57679	ALS2	Uncertain significance	rs771334830	RCV001070332;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589088	202589088	2:g.202589088G>A	-
NM_020919.4(ALS2):c.3440C>G (p.Ser1147Cys)	57679	ALS2	Uncertain significance	rs777004596	RCV001221691\|RCV003142176;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202589090	202589090	2:g.202589090G>C	-
NM_020919.4(ALS2):c.3437C>T (p.Ser1146Phe)	57679	ALS2	Uncertain significance	-1	RCV001898907;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589093	202589093	202589093	-
NM_020919.4(ALS2):c.3431C>T (p.Thr1144Met)	57679	ALS2	Uncertain significance	-1	RCV003033449;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589099	202589099	NC_000002.11:g.202589099G>A	-
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln)	57679	ALS2	Uncertain significance	rs761444982	RCV001136960\|RCV001136961\|RCV001367326\|RCV002473205;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202589114	202589114	2:g.202589114C>T	-
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)	57679	ALS2	Pathogenic/Likely pathogenic	rs767350733	RCV000421128\|RCV000624087\|RCV000735438\|RCV001851103\|RCV002481351;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011	2	202589115	202589115	2:g.202589115G>A	ClinGen:CA2057886	C0950123 Inborn genetic diseases;
NM_020919.4(ALS2):c.3395G>A (p.Arg1132His)	57679	ALS2	Uncertain significance	-1	RCV001912781;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589135	202589135	202589135	-
NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys)	57679	ALS2	Uncertain significance	rs149670991	RCV001136962\|RCV001136963\|RCV001856750;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589136	202589136	2:g.202589136G>A	-
NM_020919.4(ALS2):c.3394C>A (p.Arg1132Ser)	57679	ALS2	Uncertain significance	-1	RCV002607605;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589136	202589136	NC_000002.11:g.202589136G>T	-
NM_020919.4(ALS2):c.3381T>A (p.Phe1127Leu)	57679	ALS2	Uncertain significance	-1	RCV001895364;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589149	202589149	202589149	-
NM_020919.4(ALS2):c.3348-1G>A	57679	ALS2	Likely pathogenic	-1	RCV001379989;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589183	202589183	202589183	-
NM_020919.4(ALS2):c.3347+11A>G	57679	ALS2	Likely benign	-1	RCV002952903;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590068	202590068	NC_000002.11:g.202590068T>C	-
NM_020919.4(ALS2):c.3347+8T>C	57679	ALS2	Likely benign	-1	RCV001482512;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590071	202590071	202590071	-
NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs557709223	RCV001136964\|RCV001136965\|RCV001760096\|RCV002070598;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590081	202590081	2:g.202590081G>A	-
NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser)	57679	ALS2	Uncertain significance	rs371454893	RCV001729818\|RCV001242459;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590095	202590095	2:g.202590095C>T	-
NM_020919.4(ALS2):c.3330C>T (p.Cys1110=)	57679	ALS2	Likely benign	rs375386357	RCV000864006\|RCV001486067;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590096	202590096	2:g.202590096G>A	-
NM_020919.4(ALS2):c.3319G>A (p.Gly1107Arg)	57679	ALS2	Conflicting interpretations of pathogenicity	rs757704778	RCV000472844\|RCV002525622;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202590107	202590107	NC_000002.11:g.202590107C>T	ClinGen:CA2057917	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3309T>C (p.His1103=)	57679	ALS2	Benign/Likely benign	rs201920363	RCV000555606\|RCV001086810\|RCV001136966\|RCV001139217;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202590117	202590117	NC_000002.11:g.202590117A>G	ClinGen:CA2057918	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3307C>A (p.His1103Asn)	57679	ALS2	Uncertain significance	rs778406073	RCV000699894;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590119	202590119	NC_000002.11:g.202590119G>T	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3280A>G (p.Met1094Val)	57679	ALS2	Uncertain significance	rs772708880	RCV001229607\|RCV002563165;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202590146	202590146	2:g.202590146T>C	-
NM_020919.4(ALS2):c.3273C>T (p.Asn1091=)	57679	ALS2	Likely benign	-1	RCV001392208;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590153	202590153	202590153	-
NM_020919.4(ALS2):c.3271A>T (p.Asn1091Tyr)	57679	ALS2	Uncertain significance	-1	RCV002943085;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590155	202590155	NC_000002.11:g.202590155T>A	-
NM_020919.4(ALS2):c.3267C>T (p.Ile1089=)	57679	ALS2	Likely benign	-1	RCV002130883;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590159	202590159	202590159	-
NM_020919.4(ALS2):c.3252T>C (p.Tyr1084_Gly1085=)	57679	ALS2	Likely benign	-1	RCV002932857;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590174	202590174	NC_000002.11:g.202590174A>G	-
NM_020919.4(ALS2):c.3249G>A (p.Gly1083=)	57679	ALS2	Uncertain significance	-1	RCV001891879;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590177	202590177	202590177	-
NM_020919.4(ALS2):c.3249-7A>G	57679	ALS2	Likely benign	-1	RCV002909335;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590184	202590184	NC_000002.11:g.202590184T>C	-
NM_020919.4(ALS2):c.3248+1G>T	57679	ALS2	Likely pathogenic	-1	RCV001379324;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591206	202591206	202591206	-
NM_020919.4(ALS2):c.3237C>A (p.Gly1079_Leu1080=)	57679	ALS2	Likely benign	-1	RCV002756885;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591218	202591218	NC_000002.11:g.202591218G>T	-
NM_020919.4(ALS2):c.3223A>G (p.Met1075Val)	57679	ALS2	Uncertain significance	-1	RCV001806655\|RCV001885254\|RCV002542360;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202591232	202591232	202591232	-
NM_020919.4(ALS2):c.3221G>A (p.Gly1074Asp)	57679	ALS2	Pathogenic	-1	RCV001391371;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591234	202591234	202591234	-
NM_020919.4(ALS2):c.3215A>T (p.Tyr1072Phe)	57679	ALS2	Uncertain significance	-1	RCV003043701;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591240	202591240	NC_000002.11:g.202591240T>A	-
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)	57679	ALS2	Conflicting interpretations of pathogenicity	rs200706696	RCV000261194\|RCV000355910\|RCV000515815\|RCV000863616\|RCV001260560\|RCV001590976;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|Human Phenotype Ontology:HP:0007354,MONDO:MOND	2	202591249	202591249	NC_000002.11:g.202591249C>T	ClinGen:CA2057955	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.3204T>C (p.Asp1068=)	57679	ALS2	Likely benign	-1	RCV002199797;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591251	202591251	202591251	-
NM_020919.4(ALS2):c.3183-3C>G	57679	ALS2	Uncertain significance	rs1559049881	RCV000692381;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591275	202591275	NC_000002.11:g.202591275G>C	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3161T>C (p.Leu1054Pro)	57679	ALS2	Likely pathogenic	rs1691183538	RCV001089473;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591408	202591408	2:g.202591408A>G	-
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter)	57679	ALS2	Likely pathogenic	rs1064797281	RCV000488207\|RCV002512105;	N	MedGen:CN517202\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591411	202591411	NC_000002.11:g.202591411C>T	ClinGen:CA16621787	CN517202 not provided;
NM_020919.4(ALS2):c.3155G>A (p.Arg1052His)	57679	ALS2	Uncertain significance	-1	RCV002617417;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591414	202591414	NC_000002.11:g.202591414C>T	-
NM_020919.4(ALS2):c.3146A>G (p.Tyr1049Cys)	57679	ALS2	Uncertain significance	-1	RCV002730217;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591423	202591423	NC_000002.11:g.202591423T>C	-
NM_020919.4(ALS2):c.3145T>G (p.Tyr1049Asp)	57679	ALS2	Uncertain significance	-1	RCV001882264;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591424	202591424	202591424	-
NM_020919.4(ALS2):c.3139G>A (p.Ala1047Thr)	57679	ALS2	Uncertain significance	-1	RCV002586127;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591430	202591430	NC_000002.11:g.202591430C>T	-
NM_020919.4(ALS2):c.3136G>A (p.Asp1046Asn)	57679	ALS2	Uncertain significance	-1	RCV002658945;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591433	202591433	NC_000002.11:g.202591433C>T	-
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met)	57679	ALS2	Uncertain significance	rs781051642	RCV000704262\|RCV000764354;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:2476	2	202591435	202591435	NC_000002.11:g.202591435T>A	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3128G>A (p.Arg1043His)	57679	ALS2	Uncertain significance	-1	RCV001979398;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591441	202591441	202591441	-
NM_020919.4(ALS2):c.3099T>A (p.Ser1033Arg)	57679	ALS2	Uncertain significance	-1	RCV002279113\|RCV003096305;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591470	202591470	202591470	-
NM_020919.4(ALS2):c.3095G>A (p.Arg1032His)	57679	ALS2	Uncertain significance	-1	RCV002949308;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591474	202591474	NC_000002.11:g.202591474C>T	-
NM_020919.4(ALS2):c.3094C>T (p.Arg1032Cys)	57679	ALS2	Uncertain significance	-1	RCV001973936;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591475	202591475	202591475	-
NM_020919.4(ALS2):c.3085C>T (p.Pro1029Ser)	57679	ALS2	Uncertain significance	-1	RCV001950588;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591484	202591484	202591484	-
NM_020919.4(ALS2):c.3078G>A (p.Gln1026=)	57679	ALS2	Likely benign	rs747093220	RCV000877226;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591491	202591491	2:g.202591491C>T	-
NM_020919.4(ALS2):c.3070C>T (p.Gln1024Ter)	57679	ALS2	Pathogenic	-1	RCV003046500;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591499	202591499	NC_000002.11:g.202591499G>A	-
NM_020919.4(ALS2):c.3062G>A (p.Ser1021Asn)	57679	ALS2	Uncertain significance	rs187637699	RCV001058481\|RCV002554409;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202591507	202591507	2:g.202591507C>T	-
NM_020919.4(ALS2):c.3053G>A (p.Gly1018Glu)	57679	ALS2	Uncertain significance	-1	RCV001990990;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591516	202591516	202591516	-
NM_020919.4(ALS2):c.3047C>G (p.Pro1016Arg)	57679	ALS2	Uncertain significance	-1	RCV001872892;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591522	202591522	202591522	-
NM_020919.4(ALS2):c.3047C>A (p.Pro1016His)	57679	ALS2	Uncertain significance	-1	RCV002680743;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591522	202591522	NC_000002.11:g.202591522G>T	-
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala)	57679	ALS2	Conflicting interpretations of pathogenicity	rs41308840	RCV000640994\|RCV001139219\|RCV001139218\|RCV001591429;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202	2	202591523	202591523	NC_000002.11:g.202591523G>C	ClinGen:CA2057993	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3046C>A (p.Pro1016Thr)	57679	ALS2	Uncertain significance	-1	RCV002928433;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591523	202591523	NC_000002.11:g.202591523G>T	-
NM_020919.4(ALS2):c.3018G>A (p.Gln1006=)	57679	ALS2	Likely benign	rs1574706478	RCV000939542\|RCV001465405;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591551	202591551	2:g.202591551C>T	-
NM_020919.4(ALS2):c.3015T>G (p.Asp1005Glu)	57679	ALS2	Uncertain significance	-1	RCV001866718;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591554	202591554	202591554	-
NM_020919.4(ALS2):c.2998A>G (p.Ile1000Val)	57679	ALS2	Uncertain significance	-1	RCV002730590\|RCV002730589;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202591571	202591571	NC_000002.11:g.202591571T>C	-
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter)	57679	ALS2	Pathogenic	rs121908137	RCV000004663;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591577	202591577	NC_000002.11:g.202591577G>A	ClinGen:CA340248,OMIM:606352.0010	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2980A>C (p.Thr994Pro)	57679	ALS2	Uncertain significance	rs1359312602	RCV001043391;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591589	202591589	2:g.202591589T>G	-
NM_020919.4(ALS2):c.2980-8G>C	57679	ALS2	Likely benign	-1	RCV002198799;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591597	202591597	202591597	-
NM_020919.4(ALS2):c.2980-18G>A	57679	ALS2	Likely benign	-1	RCV002114068;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591607	202591607	202591607	-
NM_020919.4(ALS2):c.2979+20T>C	57679	ALS2	Likely benign	-1	RCV003012220;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591915	202591915	NC_000002.11:g.202591915A>G	-
NM_020919.4(ALS2):c.2979+13T>A	57679	ALS2	Likely benign	-1	RCV002213523;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591922	202591922	202591922	-
NM_020919.4(ALS2):c.2979+8T>C	57679	ALS2	Conflicting interpretations of pathogenicity	rs373602123	RCV000866523\|RCV001847067;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202591927	202591927	2:g.202591927A>G	-
NM_020919.4(ALS2):c.2979+8del	57679	ALS2	Likely benign	-1	RCV001393119;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591927	202591927	202591926	-
NM_020919.4(ALS2):c.2979+7C>G	57679	ALS2	Likely benign	-1	RCV002876569;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591928	202591928	NC_000002.11:g.202591928G>C	-
NM_020919.4(ALS2):c.2979G>A (p.Lys993=)	57679	ALS2	Uncertain significance	rs1559050770	RCV000701694;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591935	202591935	NC_000002.11:g.202591935C>T	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2978A>C (p.Lys993Thr)	57679	ALS2	Uncertain significance	-1	RCV001957839;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591936	202591936	202591936	-
NM_020919.4(ALS2):c.2926A>G (p.Ile976Val)	57679	ALS2	Uncertain significance	-1	RCV003078302;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591988	202591988	NC_000002.11:g.202591988T>C	-
NM_020919.4(ALS2):c.2925G>A (p.Lys975_Ile976=)	57679	ALS2	Likely benign	-1	RCV003072968;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591989	202591989	NC_000002.11:g.202591989C>T	-
NM_020919.4(ALS2):c.2923A>G (p.Lys975Glu)	57679	ALS2	Uncertain significance	-1	RCV002595528;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591991	202591991	NC_000002.11:g.202591991T>C	-
NM_020919.4(ALS2):c.2913-7G>A	57679	ALS2	Likely benign	-1	RCV001406796;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592008	202592008	202592008	-
NM_020919.4(ALS2):c.2913-8C>T	57679	ALS2	Likely benign	rs764690525	RCV000868682;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592009	202592009	2:g.202592009G>A	-
NM_020919.4(ALS2):c.2913-13G>A	57679	ALS2	Likely benign	-1	RCV001473272;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592014	202592014	202592014	-
NM_020919.4(ALS2):c.2913-15T>C	57679	ALS2	Likely benign	-1	RCV003111898;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592016	202592016	NC_000002.11:g.202592016A>G	-
NM_020919.4(ALS2):c.2913-17C>A	57679	ALS2	Likely benign	-1	RCV002646388;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592018	202592018	NC_000002.11:g.202592018G>T	-
NM_020919.4(ALS2):c.2912+16C>G	57679	ALS2	Likely benign	-1	RCV001939505;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592412	202592412	202592412	-
NM_020919.4(ALS2):c.2912+9G>T	57679	ALS2	Likely benign	rs543664811	RCV002539075;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592419	202592419	2:g.202592419C>A	-
NM_020919.4(ALS2):c.2912+9G>A	57679	ALS2	Likely benign	-1	RCV001470072;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592419	202592419	202592419	-
NM_020919.4(ALS2):c.2912+8C>T	57679	ALS2	Conflicting interpretations of pathogenicity	rs528131651	RCV001141832\|RCV001141833\|RCV001847072\|RCV002538983;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592420	202592420	2:g.202592420G>A	-
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)	57679	ALS2	Conflicting interpretations of pathogenicity	rs375742430	RCV000316456\|RCV000361538\|RCV000703570\|RCV001848676;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202592431	202592431	NC_000002.11:g.202592431C>A	ClinGen:CA2058054	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2876T>C (p.Leu959Pro)	57679	ALS2	Uncertain significance	rs1178248335	RCV000702466\|RCV002533654;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202592464	202592464	NC_000002.11:g.202592464A>G	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2875C>A (p.Leu959Met)	57679	ALS2	Uncertain significance	rs1553506293	RCV000540876;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592465	202592465	NC_000002.11:g.202592465G>T	ClinGen:CA350322374	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2856T>C (p.His952=)	57679	ALS2	Likely benign	rs1343812559	RCV000873530;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592484	202592484	2:g.202592484A>G	-
NM_020919.4(ALS2):c.2855A>G (p.His952Arg)	57679	ALS2	Uncertain significance	rs372139071	RCV001315964;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592485	202592485	202592485	-
NM_020919.4(ALS2):c.2850G>A (p.Thr950_His951=)	57679	ALS2	Likely benign	-1	RCV003087499;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592490	202592490	NC_000002.11:g.202592490C>T	-
NM_020919.4(ALS2):c.2849C>T (p.Thr950Met)	57679	ALS2	Uncertain significance	rs998799740	RCV001216844;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592491	202592491	2:g.202592491G>A	-
NM_020919.4(ALS2):c.2842-2A>G	57679	ALS2	Likely pathogenic	-1	RCV001379573;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592500	202592500	202592500	-
NM_020919.4(ALS2):c.2842-9C>G	57679	ALS2	Likely benign	-1	RCV001441101;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592507	202592507	202592507	-
NM_020919.4(ALS2):c.2842-16G>A	57679	ALS2	Benign	rs9288322	RCV000253757\|RCV001515527\|RCV001675754;	N	MedGen:CN169374\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202592514	202592514	2:g.202592514C>T	ClinGen:CA2058059	CN169374 not specified;
NM_020919.4(ALS2):c.2842-17C>T	57679	ALS2	Likely benign	-1	RCV002202794;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592515	202592515	202592515	-
NM_020919.4(ALS2):c.2842-20C>T	57679	ALS2	Benign/Likely benign	-1	RCV001590574\|RCV002070458\|RCV002488436;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:6072	2	202592518	202592518	202592518	-
NM_020919.4(ALS2):c.2841+19C>G	57679	ALS2	Likely benign	-1	RCV002620256;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593216	202593216	NC_000002.11:g.202593216G>C	-
NM_020919.4(ALS2):c.2841+13C>G	57679	ALS2	Likely benign	-1	RCV002934007;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593222	202593222	NC_000002.11:g.202593222G>C	-
NM_020919.4(ALS2):c.2839C>T (p.Gln947Ter)	57679	ALS2	Pathogenic	-1	RCV003072341;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593237	202593237	NC_000002.11:g.202593237G>A	-
NM_020919.4(ALS2):c.2833C>T (p.His945Tyr)	57679	ALS2	Uncertain significance	rs768066388	RCV000813724;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593243	202593243	2:g.202593243G>A	-
NM_020919.4(ALS2):c.2796C>T (p.Ser932=)	57679	ALS2	Benign	rs3219161	RCV000254279\|RCV000267099\|RCV000322182\|RCV001510257\|RCV001636812;	N	MedGen:CN169374\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202593280	202593280	2:g.202593280G>A	ClinGen:CA2058079	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2779C>A (p.His927Asn)	57679	ALS2	Uncertain significance	-1	RCV001892983;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593297	202593297	202593297	-
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)	57679	ALS2	Pathogenic	rs587777132	RCV000087053\|RCV000171328\|RCV001095478;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202593315	202593315	NC_000002.11:g.202593315G>A	ClinGen:CA236114,OMIM:606352.0015	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2756G>C (p.Ser919Thr)	57679	ALS2	Uncertain significance	-1	RCV001996522;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593320	202593320	202593320	-
NM_020919.4(ALS2):c.2745G>A (p.Leu915=)	57679	ALS2	Likely benign	-1	RCV001493392;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593331	202593331	202593331	-
NM_020919.4(ALS2):c.2713-2A>C	57679	ALS2	Pathogenic	-1	RCV002259431;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593365	202593365	202593365	-
NM_020919.4(ALS2):c.2713-13T>C	57679	ALS2	Likely benign	-1	RCV002173388;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593376	202593376	202593376	-
NM_020919.4(ALS2):c.2712+16T>G	57679	ALS2	Likely benign	-1	RCV002178394;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593759	202593759	202593759	-
NM_020919.4(ALS2):c.2712+8A>C	57679	ALS2	Likely benign	-1	RCV002124028;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593767	202593767	202593767	-
NM_020919.4(ALS2):c.2712+5G>A	57679	ALS2	Uncertain significance	-1	RCV003088181;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593770	202593770	NC_000002.11:g.202593770C>T	-
NM_020919.4(ALS2):c.2712G>A (p.Thr904=)	57679	ALS2	Uncertain significance	rs201200488	RCV000291959\|RCV000376765\|RCV000685367\|RCV001579967\|RCV001848677;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202593775	202593775	NC_000002.11:g.202593775C>T	ClinGen:CA2058110	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2651G>A (p.Arg884Lys)	57679	ALS2	Uncertain significance	-1	RCV002008739;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593836	202593836	202593836	-
NM_020919.4(ALS2):c.2647G>A (p.Gly883Ser)	57679	ALS2	Uncertain significance	-1	RCV002995050;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593840	202593840	NC_000002.11:g.202593840C>T	-
NM_020919.4(ALS2):c.2639T>C (p.Leu880Pro)	57679	ALS2	Uncertain significance	-1	RCV002045698;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593848	202593848	202593848	-
NM_020919.4(ALS2):c.2632C>T (p.Leu878Phe)	57679	ALS2	Uncertain significance	rs568716023	RCV001243074\|RCV001289225\|RCV002568563;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	2	202593855	202593855	2:g.202593855G>A	-
NM_020919.4(ALS2):c.2630G>A (p.Cys877Tyr)	57679	ALS2	Uncertain significance	-1	RCV001866773;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593857	202593857	202593857	-
NM_020919.4(ALS2):c.2616T>C (p.Ser872=)	57679	ALS2	Likely benign	rs368816555	RCV000878204\|RCV001467084;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593871	202593871	2:g.202593871A>G	-
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro)	57679	ALS2	Uncertain significance	rs1355321952	RCV001313031;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593881	202593881	202593881	-
NM_020919.4(ALS2):c.2604G>A (p.Leu868=)	57679	ALS2	Likely benign	-1	RCV002158708;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593883	202593883	202593883	-
NM_020919.4(ALS2):c.2595T>C (p.Tyr865=)	57679	ALS2	Likely benign	-1	RCV001408731;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593892	202593892	202593892	-
NM_020919.4(ALS2):c.2581-5T>A	57679	ALS2	Uncertain significance	rs1171928153	RCV000526173;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202593911	202593911	NC_000002.11:g.202593911A>T	ClinGen:CA658657198	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2580+2T>C	57679	ALS2	Pathogenic	-1	RCV002259429;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202597997	202597997	202597997	-
NM_020919.4(ALS2):c.2578G>A (p.Val860Met)	57679	ALS2	Uncertain significance	-1	RCV003079536;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598001	202598001	NC_000002.11:g.202598001C>T	-
NM_020919.4(ALS2):c.2566A>G (p.Thr856Ala)	57679	ALS2	Uncertain significance	rs758153067	RCV000808452;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598013	202598013	2:g.202598013T>C	-
NM_020919.4(ALS2):c.2560C>G (p.Leu854Val)	57679	ALS2	Uncertain significance	-1	RCV002019243;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598019	202598019	202598019	-
NM_020919.4(ALS2):c.2541C>T (p.Tyr847=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs181782027	RCV000925126\|RCV001143637\|RCV001143636\|RCV001460449;	N	MedGen:CN517202\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598038	202598038	2:g.202598038G>A	-
NM_020919.4(ALS2):c.2539T>C (p.Tyr847His)	57679	ALS2	Uncertain significance	-1	RCV002299796;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598040	202598040	202598040	-
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs)	57679	ALS2	Pathogenic	rs386134183	RCV000004660;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598041	202598042	NC_000002.11:g.202598041_202598042del	ClinGen:CA340245,OMIM:606352.0007	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln)	57679	ALS2	Uncertain significance	rs368315489	RCV001137063\|RCV001143638\|RCV002558301\|RCV002556912;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202598051	202598051	2:g.202598051C>T	-
NM_020919.4(ALS2):c.2527C>T (p.Arg843Ter)	57679	ALS2	Pathogenic	-1	RCV002603393;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598052	202598052	NC_000002.11:g.202598052G>A	-
NM_020919.4(ALS2):c.2526A>G (p.Arg842=)	57679	ALS2	Likely benign	-1	RCV002071813;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598053	202598053	202598053	-
NM_020919.4(ALS2):c.2521A>G (p.Ile841Val)	57679	ALS2	Uncertain significance	-1	RCV002637182;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598058	202598058	NC_000002.11:g.202598058T>C	-
NM_020919.4(ALS2):c.2520A>C (p.Pro840=)	57679	ALS2	Likely benign	-1	RCV001418276;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598059	202598059	202598059	-
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del)	57679	ALS2	Conflicting interpretations of pathogenicity	rs773628251	RCV000518496\|RCV000547809;	N	MedGen:CN169374\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598080	202598088	NC_000002.11:g.202598082_202598090del	ClinGen:CA2058168	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2479A>G (p.Thr827Ala)	57679	ALS2	Uncertain significance	-1	RCV002020613;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598100	202598100	202598100	-
NM_020919.4(ALS2):c.2466G>A (p.Val822=)	57679	ALS2	Benign	rs2276615	RCV000249292\|RCV000288406\|RCV000352784\|RCV000710522\|RCV001509592\|RCV001548877;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604	2	202598113	202598113	2:g.202598113C>T	ClinGen:CA2058174	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2443C>T (p.Leu815=)	57679	ALS2	Likely benign	rs200315481	RCV000911857\|RCV002065813;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598136	202598136	2:g.202598136G>A	-
NM_020919.4(ALS2):c.2430T>G (p.Asn810Lys)	57679	ALS2	Uncertain significance	rs1691694793	RCV001218139;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598149	202598149	2:g.202598149A>C	-
NM_020919.4(ALS2):c.2418-14del	57679	ALS2	Benign	-1	RCV002117861;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598175	202598175	202598174	-
NM_020919.4(ALS2):c.2417+17C>T	57679	ALS2	Likely benign	-1	RCV001956565;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202603376	202603376	202603376	-
NM_020919.4(ALS2):c.2417+10C>T	57679	ALS2	Likely benign	-1	RCV001432228;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202603383	202603383	202603383	-
NM_020919.4(ALS2):c.2417+1G>C	57679	ALS2	Pathogenic	-1	RCV002259430;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202603392	202603392	202603392	-
NM_020919.4(ALS2):c.2403T>C (p.Leu801=)	57679	ALS2	Likely benign	rs202157209	RCV000952381;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202603407	202603407	2:g.202603407A>G	-
NM_020919.4(ALS2):c.2386G>C (p.Gly796Arg)	57679	ALS2	Uncertain significance	-1	RCV001874868;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202603424	202603424	202603424	-
NM_020919.4(ALS2):c.2362T>A (p.Ser788Thr)	57679	ALS2	Uncertain significance	rs1184685995	RCV001139311\|RCV001139312\|RCV001856790;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202603448	202603448	2:g.202603448A>T	-
NM_020919.4(ALS2):c.2352-12T>A	57679	ALS2	Uncertain significance	-1	RCV002751097;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202603470	202603470	NC_000002.11:g.202603470A>T	-
NM_020919.4(ALS2):c.2351+15C>G	57679	ALS2	Likely benign	-1	RCV002756128;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606382	202606382	NC_000002.11:g.202606382G>C	-
NM_020919.4(ALS2):c.2351+14C>T	57679	ALS2	Likely benign	-1	RCV002823730;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606383	202606383	NC_000002.11:g.202606383G>A	-
NM_020919.4(ALS2):c.2351A>G (p.Glu784Gly)	57679	ALS2	Uncertain significance	-1	RCV003046868;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606397	202606397	NC_000002.11:g.202606397T>C	-
NM_020919.4(ALS2):c.2350G>A (p.Glu784Lys)	57679	ALS2	Likely benign	-1	RCV001457686;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606398	202606398	202606398	-
NM_020919.4(ALS2):c.2337G>C (p.Leu779Phe)	57679	ALS2	Uncertain significance	rs752549107	RCV000420295\|RCV002524858;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606411	202606411	NC_000002.11:g.202606411C>G	ClinGen:CA2058229	CN169374 not specified;
NM_020919.4(ALS2):c.2331C>G (p.Leu777=)	57679	ALS2	Likely benign	-1	RCV002101748;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606417	202606417	202606417	-
NM_020919.4(ALS2):c.2320C>T (p.His774Tyr)	57679	ALS2	Uncertain significance	-1	RCV002805991;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606428	202606428	NC_000002.11:g.202606428G>A	-
NM_020919.4(ALS2):c.2302A>G (p.Ser768Gly)	57679	ALS2	Uncertain significance	-1	RCV001919974;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606446	202606446	202606446	-
NM_020919.4(ALS2):c.2282A>G (p.His761Arg)	57679	ALS2	Uncertain significance	-1	RCV001848444\|RCV002034761;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606466	202606466	202606466	-
NM_020919.4(ALS2):c.2272A>G (p.Ser758Gly)	57679	ALS2	Uncertain significance	-1	RCV002592998;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606476	202606476	NC_000002.11:g.202606476T>C	-
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs3219160	RCV000294407\|RCV000388670\|RCV000756988\|RCV001082502\|RCV001848004;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202606507	202606507	NC_000002.11:g.202606507G>A	ClinGen:CA2058242	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2222G>A (p.Arg741Gln)	57679	ALS2	Uncertain significance	rs753349655	RCV000460592;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606526	202606526	NC_000002.11:g.202606526C>T	ClinGen:CA2058243	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter)	57679	ALS2	Pathogenic	rs759408917	RCV001234628\|RCV003106160;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803	2	202606527	202606527	2:g.202606527G>A	-
NM_020919.4(ALS2):c.2196C>A (p.Val732_Gln733=)	57679	ALS2	Likely benign	-1	RCV003022821;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606552	202606552	NC_000002.11:g.202606552G>T	-
NM_020919.4(ALS2):c.2193A>G (p.Thr731=)	57679	ALS2	Likely benign	rs757561918	RCV000871645\|RCV001454584;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606555	202606555	2:g.202606555T>C	-
NM_020919.4(ALS2):c.2186C>A (p.Thr729Lys)	57679	ALS2	Uncertain significance	-1	RCV002913433;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606562	202606562	NC_000002.11:g.202606562G>T	-
NM_020919.4(ALS2):c.2171-3T>C	57679	ALS2	Uncertain significance	-1	RCV001979805;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606580	202606580	202606580	-
NM_020919.4(ALS2):c.2171-4A>G	57679	ALS2	Likely benign	rs780648054	RCV000527503;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606581	202606581	NC_000002.11:g.202606581T>C	ClinGen:CA2058254	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2171-7G>A	57679	ALS2	Likely benign	rs376270303	RCV000537607;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606584	202606584	NC_000002.11:g.202606584C>T	ClinGen:CA2058255	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2171-9T>C	57679	ALS2	Likely benign	-1	RCV002110040;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606586	202606586	202606586	-
NM_020919.4(ALS2):c.2171-13T>C	57679	ALS2	Benign	-1	RCV002111742;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606590	202606590	202606590	-
NM_020919.4(ALS2):c.2171-25CAT[3]	57679	ALS2	Likely benign	-1	RCV002206523;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202606591	202606593	202606590	-
NM_020919.4(ALS2):c.2171-62C>T	57679	ALS2	Benign	-1	RCV001548878\|RCV001548879\|RCV001548880\|RCV001655873;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202606639	202606639	202606639	-
NM_020919.4(ALS2):c.2170+19T>C	57679	ALS2	Likely benign	-1	RCV002208091\|RCV002500434;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:2931	2	202608962	202608962	202608962	-
NM_020919.4(ALS2):c.2170+16del	57679	ALS2	Benign	-1	RCV002088907;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202608965	202608965	202608964	-
NM_020919.4(ALS2):c.2170+15C>T	57679	ALS2	Likely benign	-1	RCV002126353;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202608966	202608966	202608966	-
NM_020919.4(ALS2):c.2170+11A>G	57679	ALS2	Likely benign	-1	RCV002149503;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202608970	202608970	202608970	-
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter)	57679	ALS2	Pathogenic	rs121908139	RCV000004667;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609008	202609008	NC_000002.11:g.202609008G>A	ClinGen:CA340254,OMIM:606352.0014	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2117A>G (p.Tyr706Cys)	57679	ALS2	Uncertain significance	-1	RCV002801695;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609034	202609034	NC_000002.11:g.202609034T>C	-
NM_020919.4(ALS2):c.2111G>A (p.Arg704Gln)	57679	ALS2	Uncertain significance	-1	RCV001996236;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609040	202609040	202609040	-
NM_020919.4(ALS2):c.2108G>C (p.Arg703Thr)	57679	ALS2	Uncertain significance	rs770565853	RCV000517270\|RCV001857890\|RCV002525015;	N	MedGen:CN169374\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202609043	202609043	NC_000002.11:g.202609043C>G	ClinGen:CA2058281	CN169374 not specified;
NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter)	57679	ALS2	Likely pathogenic	rs1574748038	RCV000991370;	N	MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609047	202609047	2:g.202609047C>A	-
NM_020919.4(ALS2):c.2089G>A (p.Glu697Lys)	57679	ALS2	Uncertain significance	rs772918314	RCV000818309;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609062	202609062	2:g.202609062C>T	-
NM_020919.4(ALS2):c.2088C>T (p.His696=)	57679	ALS2	Likely benign	-1	RCV001531946\|RCV002071902;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609063	202609063	202609063	-
NM_020919.4(ALS2):c.2088C>G (p.His696Gln)	57679	ALS2	Uncertain significance	-1	RCV002820881;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609063	202609063	NC_000002.11:g.202609063G>C	-
NM_020919.4(ALS2):c.2077G>A (p.Ala693Thr)	57679	ALS2	Uncertain significance	-1	RCV002043813;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609074	202609074	202609074	-
NM_020919.4(ALS2):c.2072A>C (p.Tyr691Ser)	57679	ALS2	Uncertain significance	-1	RCV001895313;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609079	202609079	202609079	-
NM_020919.4(ALS2):c.2032G>T (p.Asp678Tyr)	57679	ALS2	Uncertain significance	-1	RCV003029653;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609119	202609119	NC_000002.11:g.202609119C>A	-
NM_020919.4(ALS2):c.2028A>G (p.Gly676=)	57679	ALS2	Likely benign	rs1379284072	RCV002539026;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609123	202609123	2:g.202609123T>C	-
NM_020919.4(ALS2):c.2016_2026del (p.Val673fs)	57679	ALS2	Pathogenic	rs1692492382	RCV001217451;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609125	202609135	2:g.202609125_202609135del	-
NM_020919.4(ALS2):c.2024C>G (p.Ala675Gly)	57679	ALS2	Uncertain significance	-1	RCV001948229;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609127	202609127	202609127	-
NM_020919.4(ALS2):c.2004A>G (p.Gly668=)	57679	ALS2	Likely benign	-1	RCV001504438;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609147	202609147	202609147	-
NM_020919.4(ALS2):c.1999-2A>T	57679	ALS2	Pathogenic	rs386134182	RCV000034887;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609154	202609154	NC_000002.11:g.202609154T>A	ClinGen:CA344493	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1998+11A>G	57679	ALS2	Likely benign	-1	RCV002216761;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611278	202611278	202611278	-
NM_020919.4(ALS2):c.1998+6C>G	57679	ALS2	Uncertain significance	rs1359989080	RCV000706874;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611283	202611283	NC_000002.11:g.202611283G>C	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1998+4A>G	57679	ALS2	Uncertain significance	rs773142036	RCV000798363;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611285	202611285	2:g.202611285T>C	-
NM_020919.4(ALS2):c.1988C>T (p.Ser663Phe)	57679	ALS2	Uncertain significance	-1	RCV001361989;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611299	202611299	202611299	-
NM_020919.4(ALS2):c.1977A>T (p.Pro659=)	57679	ALS2	Likely benign	rs1060504992	RCV000460946\|RCV001444366;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611310	202611310	NC_000002.11:g.202611310T>A	ClinGen:CA16610562	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1969A>G (p.Lys657Glu)	57679	ALS2	Uncertain significance	rs753947052	RCV000549260;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611318	202611318	NC_000002.11:g.202611318T>C	ClinGen:CA2058316	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1964G>A (p.Gly655Asp)	57679	ALS2	Uncertain significance	rs759573942	RCV001222683;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611323	202611323	2:g.202611323C>T	-
NM_020919.4(ALS2):c.1960A>C (p.Ser654Arg)	57679	ALS2	Uncertain significance	rs61757690	RCV000991513\|RCV002549759;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611327	202611327	2:g.202611327T>G	-
NM_020919.4(ALS2):c.1960A>G (p.Ser654Gly)	57679	ALS2	Uncertain significance	rs61757690	RCV001233911;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611327	202611327	2:g.202611327T>C	-
NM_020919.4(ALS2):c.1946T>C (p.Leu649Pro)	57679	ALS2	Uncertain significance	-1	RCV003055706;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611341	202611341	NC_000002.11:g.202611341A>G	-
NM_020919.4(ALS2):c.1921C>T (p.Gln641Ter)	57679	ALS2	Pathogenic	rs1553511680	RCV000640989;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611366	202611366	NC_000002.11:g.202611366G>A	ClinGen:CA350325443	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1919G>A (p.Arg640Gln)	57679	ALS2	Uncertain significance	-1	RCV003063452;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611368	202611368	NC_000002.11:g.202611368C>T	-
NM_020919.4(ALS2):c.1911C>A (p.Tyr637Ter)	57679	ALS2	Likely pathogenic	rs863225294	RCV000986980;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611376	202611376	NC_000002.11:g.202611376G>T	ClinVar:217879	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1890C>T (p.Asp630_Phe631=)	57679	ALS2	Likely benign	-1	RCV003083521;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611397	202611397	NC_000002.11:g.202611397G>A	-
NM_020919.4(ALS2):c.1886A>G (p.Glu629Gly)	57679	ALS2	Uncertain significance	rs1692682988	RCV001206576;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611401	202611401	2:g.202611401T>C	-
NM_020919.4(ALS2):c.1885G>A (p.Glu629Lys)	57679	ALS2	Uncertain significance	rs748812008	RCV001303045;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611402	202611402	202611402	-
NM_020919.4(ALS2):c.1880A>G (p.Asp627Gly)	57679	ALS2	Uncertain significance	-1	RCV002760699;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611407	202611407	NC_000002.11:g.202611407T>C	-
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs)	57679	ALS2	Pathogenic	rs386134181	RCV000004656\|RCV000995486;	N	MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611419	202611420	2:g.202611419_202611420del	ClinGen:CA340239,OMIM:606352.0002	C1853396 606353 Juvenile primary lateral sclerosis;
NM_020919.4(ALS2):c.1855A>G (p.Arg619Gly)	57679	ALS2	Uncertain significance	-1	RCV001848437\|RCV002543401;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611432	202611432	202611432	-
NM_020919.4(ALS2):c.1850C>T (p.Ala617Val)	57679	ALS2	Uncertain significance	-1	RCV001888269;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611437	202611437	202611437	-
NM_020919.4(ALS2):c.1832G>C (p.Gly611Ala)	57679	ALS2	Conflicting interpretations of pathogenicity	-1	RCV001917467\|RCV002553553;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202611455	202611455	202611455	-
NM_020919.4(ALS2):c.1816A>T (p.Ile606Leu)	57679	ALS2	Uncertain significance	rs977136303	RCV001304408;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611471	202611471	202611471	-
NM_020919.4(ALS2):c.1816-1G>A	57679	ALS2	Likely pathogenic	rs1060503672	RCV000457236;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611472	202611472	NC_000002.11:g.202611472C>T	ClinGen:CA16610691	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1816-7G>A	57679	ALS2	Conflicting interpretations of pathogenicity	rs763440221	RCV001139313\|RCV001139314\|RCV002559343;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611478	202611478	2:g.202611478C>T	-
NM_020919.4(ALS2):c.1816-8C>T	57679	ALS2	Conflicting interpretations of pathogenicity	rs185911369	RCV000251509\|RCV000349374\|RCV000400905\|RCV000710520\|RCV001087893\|RCV001848038;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202611479	202611479	2:g.202611479G>A	ClinGen:CA2058339	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.1816-10G>T	57679	ALS2	Benign/Likely benign	-1	RCV001517976\|RCV001551059\|RCV001658210;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MedGen:CN169374	2	202611481	202611481	202611481	-
NM_020919.4(ALS2):c.1816-18_1816-17del	57679	ALS2	Likely benign	-1	RCV002994531;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611488	202611489	NC_000002.11:g.202611489_202611490del	-
NM_020919.4(ALS2):c.1816-19T>C	57679	ALS2	Likely benign	-1	RCV002079028;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611490	202611490	202611490	-
NM_020919.4(ALS2):c.1815+4_1815+15del	57679	ALS2	Uncertain significance	rs764299522	RCV001227871;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202614420	202614431	2:g.202614420_202614431del	-
NM_020919.4(ALS2):c.1815+15T>C	57679	ALS2	Likely benign	-1	RCV002862227;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202614420	202614420	NC_000002.11:g.202614420A>G	-
NM_020919.4(ALS2):c.1815+8T>G	57679	ALS2	Likely benign	rs746020900	RCV000560701;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202614427	202614427	NC_000002.11:g.202614427A>C	ClinGen:CA2058355	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1783G>A (p.Asp595Asn)	57679	ALS2	Uncertain significance	rs199603159	RCV001240971\|RCV001760268;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202614467	202614467	2:g.202614467C>T	-
NM_020919.4(ALS2):c.1782C>T (p.Ser594=)	57679	ALS2	Likely benign	-1	RCV001436239;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202614468	202614468	202614468	-
NM_020919.4(ALS2):c.1770A>G (p.Gln590_Leu591=)	57679	ALS2	Likely benign	-1	RCV002654010;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202614480	202614480	NC_000002.11:g.202614480T>C	-
NM_020919.4(ALS2):c.1738-6dup	57679	ALS2	Benign	-1	RCV002132441;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202614517	202614518	202614517	-
NM_020919.4(ALS2):c.1737+7G>A	57679	ALS2	Conflicting interpretations of pathogenicity	-1	RCV002475046\|RCV003108123;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617862	202617862	NC_000002.11:g.202617862C>T	-
NM_020919.4(ALS2):c.1737+3A>G	57679	ALS2	Uncertain significance	rs3219158	RCV001337160;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617866	202617866	202617866	-
NM_020919.4(ALS2):c.1728G>T (p.Ala576=)	57679	ALS2	Likely benign	-1	RCV001419806;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617878	202617878	202617878	-
NM_020919.4(ALS2):c.1728G>A (p.Ala576_Lys577=)	57679	ALS2	Likely benign	-1	RCV002882200;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617878	202617878	NC_000002.11:g.202617878C>T	-
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu)	57679	ALS2	Likely pathogenic	rs763455928	RCV001089471\|RCV001095477;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202617888	202617888	2:g.202617888G>T	-
NM_020919.4(ALS2):c.1689T>C (p.His563_Leu564=)	57679	ALS2	Likely benign	-1	RCV002975652;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617917	202617917	NC_000002.11:g.202617917A>G	-
NM_020919.4(ALS2):c.1686C>G (p.Ile562Met)	57679	ALS2	Uncertain significance	-1	RCV002296884;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617920	202617920	202617920	-
NM_020919.4(ALS2):c.1685T>C (p.Ile562Thr)	57679	ALS2	Uncertain significance	-1	RCV001596470\|RCV001866245;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617921	202617921	202617921	-
NM_020919.4(ALS2):c.1677A>G (p.Lys559=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs367640165	RCV000306041\|RCV000407711\|RCV000546027\|RCV001848679\|RCV001580129;	N	MedGen:CN239196\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:CN517202	2	202617929	202617929	NC_000002.11:g.202617929T>C	ClinGen:CA2058388	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.1673G>A (p.Gly558Asp)	57679	ALS2	Uncertain significance	-1	RCV002833757;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617933	202617933	NC_000002.11:g.202617933C>T	-
NM_020919.4(ALS2):c.1659A>G (p.Val553=)	57679	ALS2	Likely benign	rs1553513336	RCV000535803;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617947	202617947	NC_000002.11:g.202617947T>C	ClinGen:CA430665577	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1653G>A (p.Leu551=)	57679	ALS2	Likely benign	-1	RCV002169144;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617953	202617953	202617953	-
NM_020919.4(ALS2):c.1650G>A (p.Pro550=)	57679	ALS2	Likely benign	-1	RCV002078188;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617956	202617956	202617956	-
NM_020919.4(ALS2):c.1641G>A (p.Arg547=)	57679	ALS2	Uncertain significance	rs34122078	RCV000557506\|RCV001141937\|RCV001141938\|RCV001553526;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202	2	202617965	202617965	NC_000002.11:g.202617965C>T	ClinGen:CA2058394	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1641-16T>C	57679	ALS2	Likely benign	-1	RCV002115229;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617981	202617981	202617981	-
NM_020919.4(ALS2):c.1641-20C>T	57679	ALS2	Likely benign	-1	RCV002875848;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202617985	202617985	NC_000002.11:g.202617985G>A	-
NM_020919.4(ALS2):c.1640+7G>A	57679	ALS2	Likely benign	-1	RCV002929111;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619219	202619219	NC_000002.11:g.202619219C>T	-
NM_020919.4(ALS2):c.1640+1G>A	57679	ALS2	Pathogenic/Likely pathogenic	-1	RCV001814407\|RCV002292646\|RCV002471117;	N	Human Phenotype Ontology:HP:0011442,MedGen:C4023354\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619225	202619225	202619225	-
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)	57679	ALS2	Conflicting interpretations of pathogenicity	rs201161419	RCV000862041\|RCV001143735\|RCV001143736\|RCV001672966\|RCV001849153;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202619239	202619239	2:g.202619239C>T	-
NM_020919.4(ALS2):c.1626C>T (p.Gly542_Asp543=)	57679	ALS2	Uncertain significance	-1	RCV002976177;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619240	202619240	NC_000002.11:g.202619240G>A	-
NM_020919.4(ALS2):c.1624G>A (p.Gly542Ser)	57679	ALS2	Uncertain significance	rs778030657	RCV000820021;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619242	202619242	2:g.202619242C>T	-
NM_020919.4(ALS2):c.1623C>T (p.His541=)	57679	ALS2	Likely benign	rs377247745	RCV000226594;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619243	202619243	NC_000002.11:g.202619243G>A	ClinGen:CA2058417	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1622del (p.His541fs)	57679	ALS2	Pathogenic	-1	RCV001955652;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619244	202619244	202619243	-
NM_020919.4(ALS2):c.1611G>A (p.Gly537=)	57679	ALS2	Likely benign	-1	RCV002208613;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619255	202619255	202619255	-
NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg)	57679	ALS2	Uncertain significance	rs1553513641	RCV000640993\|RCV001771870;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202619266	202619266	NC_000002.11:g.202619266C>G	ClinGen:CA350326176	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1578A>G (p.Thr526=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs147284131	RCV000469355\|RCV001087516\|RCV001848841;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202619288	202619288	NC_000002.11:g.202619288T>C	ClinGen:CA2058423	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1558C>T (p.Leu520Phe)	57679	ALS2	Conflicting interpretations of pathogenicity	rs569869571	RCV000991512\|RCV001039202;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619308	202619308	2:g.202619308G>A	-
NM_020919.4(ALS2):c.1553A>G (p.Asp518Gly)	57679	ALS2	Uncertain significance	-1	RCV002031026;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619313	202619313	202619313	-
NM_020919.4(ALS2):c.1550C>G (p.Ala517Gly)	57679	ALS2	Uncertain significance	-1	RCV002900179;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619316	202619316	NC_000002.11:g.202619316G>C	-
NM_020919.4(ALS2):c.1540A>G (p.Ser514Gly)	57679	ALS2	Uncertain significance	-1	RCV002947381;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619326	202619326	NC_000002.11:g.202619326T>C	-
NM_020919.4(ALS2):c.1531C>A (p.Pro511Thr)	57679	ALS2	Uncertain significance	-1	RCV001901563;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619335	202619335	202619335	-
NM_020919.4(ALS2):c.1509A>G (p.Lys503=)	57679	ALS2	Likely benign	-1	RCV002092242;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619357	202619357	202619357	-
NM_020919.4(ALS2):c.1502G>A (p.Arg501Gln)	57679	ALS2	Uncertain significance	rs760216233	RCV001319335;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619364	202619364	202619364	-
NM_020919.4(ALS2):c.1483C>G (p.Leu495Val)	57679	ALS2	Uncertain significance	-1	RCV001871145;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619383	202619383	202619383	-
NM_020919.4(ALS2):c.1479C>T (p.Pro493=)	57679	ALS2	Likely benign	-1	RCV002100071;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619387	202619387	202619387	-
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG	57679	ALS2	Pathogenic	rs387906316	RCV000004659;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619395	202619395	2:g.202619395C>A	ClinGen:CA340244,OMIM:606352.0006	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1472-10T>G	57679	ALS2	Uncertain significance	rs376714642	RCV001215400;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619404	202619404	2:g.202619404A>C	-
NM_020919.4(ALS2):c.1472-17G>A	57679	ALS2	Likely benign	-1	RCV002110479;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619411	202619411	202619411	-
NM_020919.4(ALS2):c.1472-18C>T	57679	ALS2	Benign	-1	RCV002080271;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619412	202619412	202619412	-
NM_020919.4(ALS2):c.1472-20del	57679	ALS2	Benign	-1	RCV002117862;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619414	202619414	202619413	-
NM_020919.4(ALS2):c.1472-20C>T	57679	ALS2	Likely benign	-1	RCV002700007;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202619414	202619414	NC_000002.11:g.202619414G>A	-
NM_020919.4(ALS2):c.1471+3A>G	57679	ALS2	Uncertain significance	-1	RCV001993550;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622122	202622122	202622122	-
NM_020919.4(ALS2):c.1471+1G>A	57679	ALS2	Likely pathogenic	rs1693462968	RCV001089476;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622124	202622124	2:g.202622124C>T	-
NM_020919.4(ALS2):c.1446C>T (p.Leu482=)	57679	ALS2	Likely benign	-1	RCV002164226;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622150	202622150	202622150	-
NM_020919.4(ALS2):c.1439G>A (p.Arg480Gln)	57679	ALS2	Uncertain significance	rs762706628	RCV000814363;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622157	202622157	2:g.202622157C>T	-
NM_020919.4(ALS2):c.1433G>C (p.Gly478Ala)	57679	ALS2	Uncertain significance	rs373603368	RCV000545112;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622163	202622163	NC_000002.11:g.202622163C>G	ClinGen:CA2058468	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1425_1428del (p.Gly477fs)	57679	ALS2	Pathogenic	rs878855058	RCV000232793;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622168	202622171	NC_000002.11:g.202622168_202622171del	ClinGen:CA10581911	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1414G>A (p.Glu472Lys)	57679	ALS2	Uncertain significance	-1	RCV002741808;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622182	202622182	NC_000002.11:g.202622182C>T	-
NM_020919.4(ALS2):c.1348A>T (p.Arg450Trp)	57679	ALS2	Uncertain significance	-1	RCV002937302;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622248	202622248	NC_000002.11:g.202622248T>A	-
NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs)	57679	ALS2	Likely pathogenic	-1	RCV002512482;	N	MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622269	202622275	NC_000002.11:g.202622272_202622278del	-
NM_020919.4(ALS2):c.1325G>C (p.Gly442Ala)	57679	ALS2	Uncertain significance	rs780750146	RCV000811586;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622271	202622271	2:g.202622271C>G	-
NM_020919.4(ALS2):c.1319C>G (p.Ala440Gly)	57679	ALS2	Uncertain significance	-1	RCV002801042;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622277	202622277	NC_000002.11:g.202622277G>C	-
NM_020919.4(ALS2):c.1290T>C (p.Cys430=)	57679	ALS2	Likely benign	-1	RCV002108211;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622306	202622306	202622306	-
NM_020919.4(ALS2):c.1265T>C (p.Met422Thr)	57679	ALS2	Uncertain significance	-1	RCV001974475;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622331	202622331	202622331	-
NM_020919.4(ALS2):c.1256A>T (p.Lys419Met)	57679	ALS2	Uncertain significance	-1	RCV001944573;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622340	202622340	202622340	-
NM_020919.4(ALS2):c.1250C>A (p.Ser417Ter)	57679	ALS2	Likely pathogenic	-1	RCV002508855;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622346	202622346	NC_000002.11:g.202622346G>T	-
NM_020919.4(ALS2):c.1250C>T (p.Ser417Leu)	57679	ALS2	Uncertain significance	-1	RCV003014561;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622346	202622346	NC_000002.11:g.202622346G>A	-
NM_020919.4(ALS2):c.1249T>C (p.Ser417Pro)	57679	ALS2	Uncertain significance	-1	RCV001952453;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622347	202622347	202622347	-
NM_020919.4(ALS2):c.1241G>A (p.Gly414Asp)	57679	ALS2	Uncertain significance	-1	RCV001965180;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622355	202622355	202622355	-
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)	57679	ALS2	Pathogenic	rs369577952	RCV000640988\|RCV000763471;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:2931	2	202622363	202622363	NC_000002.11:g.202622363A>C	ClinGen:CA350326975	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1204G>A (p.Ala402Thr)	57679	ALS2	Uncertain significance	-1	RCV003063665;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622392	202622392	NC_000002.11:g.202622392C>T	-
NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr)	57679	ALS2	Uncertain significance	rs41308816	RCV000530345\|RCV001137182\|RCV001137183;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202622425	202622425	NC_000002.11:g.202622425C>T	ClinGen:CA2058502	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1171G>T (p.Ala391Ser)	57679	ALS2	Uncertain significance	-1	RCV001888056;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622425	202622425	202622425	-
NM_020919.4(ALS2):c.1164C>T (p.Ser388=)	57679	ALS2	Likely benign	rs372566343	RCV000867541\|RCV001585825;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202622432	202622432	2:g.202622432G>A	-
NM_020919.4(ALS2):c.1158C>A (p.Thr386=)	57679	ALS2	Benign	-1	RCV002122928;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622438	202622438	202622438	-
NM_020919.4(ALS2):c.1151C>T (p.Pro384Leu)	57679	ALS2	Uncertain significance	rs1216448093	RCV000997646\|RCV001858860;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622445	202622445	2:g.202622445G>A	-
NM_020919.4(ALS2):c.1139A>C (p.Asn380Thr)	57679	ALS2	Uncertain significance	-1	RCV001926911;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622457	202622457	202622457	-
NM_020919.4(ALS2):c.1129G>A (p.Ala377Thr)	57679	ALS2	Uncertain significance	rs200990057	RCV000991511\|RCV001245925;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622467	202622467	2:g.202622467C>T	-
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)	57679	ALS2	Conflicting interpretations of pathogenicity	rs190369242	RCV000512695\|RCV000516346\|RCV000764355\|RCV001082210\|RCV001137184\|RCV001139424\|RCV001848003;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0011797,MedGen:C2	2	202622481	202622481	NC_000002.11:g.202622481G>C	ClinGen:CA2058513	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1114-1G>A	57679	ALS2	Likely pathogenic	-1	RCV002014253;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622483	202622483	202622483	-
NM_020919.4(ALS2):c.1114-17A>G	57679	ALS2	Likely benign	-1	RCV002119555;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622499	202622499	202622499	-
NM_020919.4(ALS2):c.1114-19T>G	57679	ALS2	Likely benign	-1	RCV002081202;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622501	202622501	202622501	-
NM_020919.4(ALS2):c.1113+17A>G	57679	ALS2	Likely benign	-1	RCV002913149;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625587	202625587	NC_000002.11:g.202625587T>C	-
NM_020919.4(ALS2):c.1113+10C>T	57679	ALS2	Likely benign	-1	RCV002995840;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625594	202625594	NC_000002.11:g.202625594G>A	-
NM_020919.4(ALS2):c.1102G>A (p.Val368Met)	57679	ALS2	Benign	rs3219156	RCV000243956\|RCV000269440\|RCV000326864\|RCV000710519\|RCV001509593\|RCV001548881;	N	MedGen:CN169374\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604	2	202625615	202625615	2:g.202625615C>T	ClinGen:CA2058548,UniProtKB:Q96Q42#VAR_015656	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.1091G>A (p.Gly364Asp)	57679	ALS2	Likely benign	-1	RCV002765404;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625626	202625626	NC_000002.11:g.202625626C>T	-
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs)	57679	ALS2	Pathogenic/Likely pathogenic	rs1574786170	RCV000984509;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625656	202625663	2:g.202625656_202625663del	-
NM_020919.4(ALS2):c.1054C>T (p.Leu352=)	57679	ALS2	Likely benign	rs1574786180	RCV000981037\|RCV001453876;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625663	202625663	2:g.202625663G>A	-
NM_020919.4(ALS2):c.1049G>A (p.Arg350Gln)	57679	ALS2	Conflicting interpretations of pathogenicity	-1	RCV002261726\|RCV003101456\|RCV003101455;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202625668	202625668	202625668	-
NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp)	57679	ALS2	Uncertain significance	-1	RCV001848394\|RCV002034756;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625669	202625669	202625669	-
NM_020919.4(ALS2):c.1044C>G (p.Tyr348Ter)	57679	ALS2	Pathogenic	rs1693726956	RCV001089472;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625673	202625673	2:g.202625673G>C	-
NM_020919.4(ALS2):c.1044C>T (p.Tyr348=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs1693726956	RCV001139425\|RCV001139426\|RCV002556972;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625673	202625673	2:g.202625673G>A	-
NM_020919.4(ALS2):c.1042T>C (p.Tyr348His)	57679	ALS2	Uncertain significance	-1	RCV001905991;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625675	202625675	202625675	-
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser)	57679	ALS2	Uncertain significance	rs199757764	RCV000640990\|RCV001140200\|RCV001139427;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202625680	202625680	NC_000002.11:g.202625680T>C	ClinGen:CA2058557	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1033G>A (p.Val345Ile)	57679	ALS2	Uncertain significance	rs768018989	RCV000521782\|RCV002525221;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625684	202625684	NC_000002.11:g.202625684C>T	ClinGen:CA2058558	CN169374 not specified;
NM_020919.4(ALS2):c.1032A>G (p.Ala344=)	57679	ALS2	Likely benign	-1	RCV002095830\|RCV002222755;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169374	2	202625685	202625685	202625685	-
NM_020919.4(ALS2):c.1016A>G (p.Tyr339Cys)	57679	ALS2	Uncertain significance	rs1693728773	RCV001070387;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625701	202625701	2:g.202625701T>C	-
NM_020919.4(ALS2):c.1009C>A (p.Pro337Thr)	57679	ALS2	Uncertain significance	-1	RCV002638462;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625708	202625708	NC_000002.11:g.202625708G>T	-
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs)	57679	ALS2	Pathogenic	rs386134175	RCV000004661;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625709	202625710	NC_000002.11:g.202625710_202625711del	ClinGen:CA340246,OMIM:606352.0008	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1008A>G (p.Ile336Met)	57679	ALS2	Uncertain significance	-1	RCV001872092\|RCV002548697;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202625709	202625709	202625709	-
NM_020919.4(ALS2):c.979A>G (p.Thr327Ala)	57679	ALS2	Uncertain significance	-1	RCV001935075;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625738	202625738	202625738	-
NM_020919.4(ALS2):c.977del (p.Gly326fs)	57679	ALS2	Pathogenic	-1	RCV002842277;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625740	202625740	NC_000002.11:g.202625742del	-
NM_020919.4(ALS2):c.960T>C (p.Ser320=)	57679	ALS2	Likely benign	-1	RCV002207136;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625757	202625757	202625757	-
NM_020919.4(ALS2):c.956C>T (p.Ser319Phe)	57679	ALS2	Uncertain significance	-1	RCV001359220;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625761	202625761	202625761	-
NM_020919.4(ALS2):c.945C>T (p.Ser315=)	57679	ALS2	Likely benign	-1	RCV002103258;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625772	202625772	202625772	-
NM_020919.4(ALS2):c.938C>G (p.Thr313Arg)	57679	ALS2	Uncertain significance	-1	RCV002659457;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625779	202625779	NC_000002.11:g.202625779G>C	-
NM_020919.4(ALS2):c.929C>T (p.Ala310Val)	57679	ALS2	Uncertain significance	-1	RCV002705587;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625788	202625788	NC_000002.11:g.202625788G>A	-
NM_020919.4(ALS2):c.913del (p.Glu304_Leu305insTer)	57679	ALS2	Pathogenic	rs1574786641	RCV000995487;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625804	202625804	2:g.202625804_202625804del	-
NM_020919.4(ALS2):c.907A>G (p.Thr303Ala)	57679	ALS2	Uncertain significance	-1	RCV002717331;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625810	202625810	NC_000002.11:g.202625810T>C	-
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr)	57679	ALS2	Uncertain significance	rs765049503	RCV001140204\|RCV001140203\|RCV001579560\|RCV002559355;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625831	202625831	2:g.202625831C>T	-
NM_020919.4(ALS2):c.883G>A (p.Val295Ile)	57679	ALS2	Uncertain significance	-1	RCV002601765;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625834	202625834	NC_000002.11:g.202625834C>T	-
NM_020919.4(ALS2):c.882T>C (p.Leu294_Val295=)	57679	ALS2	Likely benign	-1	RCV002837614;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625835	202625835	NC_000002.11:g.202625835A>G	-
NM_020919.4(ALS2):c.881T>C (p.Leu294Pro)	57679	ALS2	Uncertain significance	-1	RCV002895262;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625836	202625836	NC_000002.11:g.202625836A>G	-
NM_020919.4(ALS2):c.879T>A (p.Thr293=)	57679	ALS2	Likely benign	rs757197882	RCV000867645\|RCV001412544;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625838	202625838	2:g.202625838A>T	-
NM_020919.4(ALS2):c.878C>T (p.Thr293Ile)	57679	ALS2	Uncertain significance	-1	RCV001925770;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625839	202625839	202625839	-
NM_020919.4(ALS2):c.864del (p.Val289fs)	57679	ALS2	Pathogenic	-1	RCV001942307;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625853	202625853	202625852	-
NM_020919.4(ALS2):c.861A>G (p.Glu287=)	57679	ALS2	Likely benign	rs780368192	RCV000862702;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625856	202625856	2:g.202625856T>C	-
NM_020919.4(ALS2):c.853A>G (p.Arg285Gly)	57679	ALS2	Uncertain significance	-1	RCV001848521\|RCV002034765;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625864	202625864	202625864	-
NM_020919.4(ALS2):c.845C>T (p.Thr282Ile)	57679	ALS2	Uncertain significance	-1	RCV003035170;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625872	202625872	NC_000002.11:g.202625872G>A	-
NM_020919.4(ALS2):c.815C>T (p.Ala272Val)	57679	ALS2	Uncertain significance	-1	RCV002000460;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625902	202625902	202625902	-
NM_020919.4(ALS2):c.784A>G (p.Thr262Ala)	57679	ALS2	Uncertain significance	-1	RCV003090117;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625933	202625933	NC_000002.11:g.202625933T>C	-
NM_020919.4(ALS2):c.780T>G (p.Gly260_Val261=)	57679	ALS2	Likely benign	-1	RCV002835193;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625937	202625937	NC_000002.11:g.202625937A>C	-
NM_020919.4(ALS2):c.749T>C (p.Ile250Thr)	57679	ALS2	Uncertain significance	-1	RCV001974325;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625968	202625968	202625968	-
NM_020919.4(ALS2):c.735_738del (p.Glu246fs)	57679	ALS2	Pathogenic/Likely pathogenic	rs1064793583	RCV000486714\|RCV001386854;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625979	202625982	NC_000002.11:g.202625981_202625984del	ClinGen:CA16617417	CN517202 not provided;
NM_020919.4(ALS2):c.725T>C (p.Met242Thr)	57679	ALS2	Uncertain significance	rs200733209	RCV001061841\|RCV001585962\|RCV001847143;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202625992	202625992	2:g.202625992A>G	-
NM_020919.4(ALS2):c.690A>G (p.Glu230=)	57679	ALS2	Likely benign	-1	RCV001960757;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626027	202626027	202626027	-
NM_020919.4(ALS2):c.676A>G (p.Lys226Glu)	57679	ALS2	Uncertain significance	-1	RCV003005410;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626041	202626041	NC_000002.11:g.202626041T>C	-
NM_020919.4(ALS2):c.675G>A (p.Leu225_Lys226=)	57679	ALS2	Likely benign	-1	RCV002958435;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626042	202626042	NC_000002.11:g.202626042C>T	-
NM_020919.4(ALS2):c.661C>T (p.Pro221Ser)	57679	ALS2	Uncertain significance	-1	RCV002581501\|RCV002608168;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626056	202626056	NC_000002.11:g.202626056G>A	-
NM_020919.4(ALS2):c.660C>G (p.Leu220=)	57679	ALS2	Likely benign	-1	RCV002127189;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626057	202626057	202626057	-
NM_020919.4(ALS2):c.654A>G (p.Gln218_Cys219=)	57679	ALS2	Likely benign	-1	RCV002982681;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626063	202626063	NC_000002.11:g.202626063T>C	-
NM_020919.4(ALS2):c.653A>G (p.Gln218Arg)	57679	ALS2	Uncertain significance	-1	RCV003118171;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626064	202626064	NC_000002.11:g.202626064T>C	-
NM_020919.4(ALS2):c.602G>A (p.Arg201Gln)	57679	ALS2	Uncertain significance	-1	RCV001361252;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626115	202626115	202626115	-
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)	57679	ALS2	Pathogenic/Likely pathogenic	rs1574787779	RCV000991371\|RCV000995488\|RCV001030773;	N	MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:2931	2	202626116	202626116	2:g.202626116G>A	-
NM_020919.4(ALS2):c.576G>C (p.Pro192=)	57679	ALS2	Likely benign	rs368315644	RCV000640996\|RCV001311978;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202626141	202626141	NC_000002.11:g.202626141C>G	ClinGen:CA2058627	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu)	57679	ALS2	Conflicting interpretations of pathogenicity	-1	RCV001391370;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626142	202626142	202626142	-
NM_020919.4(ALS2):c.535C>T (p.Gln179Ter)	57679	ALS2	Pathogenic/Likely pathogenic	rs746255868	RCV000598924\|RCV001868005;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626182	202626182	NC_000002.11:g.202626182G>A	ClinGen:CA2058633	CN517202 not provided;
NM_020919.4(ALS2):c.533G>T (p.Cys178Phe)	57679	ALS2	Uncertain significance	-1	RCV003058278;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626184	202626184	NC_000002.11:g.202626184C>A	-
NM_020919.4(ALS2):c.528C>T (p.Thr176=)	57679	ALS2	Likely benign	rs35097965	RCV000866309\|RCV002064534;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626189	202626189	2:g.202626189G>A	-
NM_020919.4(ALS2):c.519A>G (p.Ala173_Trp174=)	57679	ALS2	Likely benign	-1	RCV003076553;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626198	202626198	NC_000002.11:g.202626198T>C	-
NM_020919.4(ALS2):c.514T>G (p.Trp172Gly)	57679	ALS2	Uncertain significance	-1	RCV002009867;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626203	202626203	202626203	-
NM_020919.4(ALS2):c.508G>A (p.Glu170Lys)	57679	ALS2	Uncertain significance	rs189254609	RCV001049451;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626209	202626209	2:g.202626209C>T	-
NM_020919.4(ALS2):c.499A>G (p.Ile167Val)	57679	ALS2	Uncertain significance	-1	RCV001926384;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626218	202626218	202626218	-
NM_020919.4(ALS2):c.492A>G (p.Ala164_Leu165=)	57679	ALS2	Likely benign	-1	RCV002633266;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626225	202626225	NC_000002.11:g.202626225T>C	-
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)	57679	ALS2	Benign/Likely benign	rs3219155	RCV000227758\|RCV000330397\|RCV001142050\|RCV001287973\|RCV001711641\|RCV001848005\|RCV002494657;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:00	2	202626242	202626242	NC_000002.11:g.202626242C>T	ClinGen:CA2058645,UniProtKB:Q96Q42#VAR_036748	CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_020919.4(ALS2):c.474C>T (p.Gly158=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs373190287	RCV001296339\|RCV001597266;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202626243	202626243	202626243	-
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr)	57679	ALS2	Pathogenic/Likely pathogenic	rs121908138	RCV000004665\|RCV001090658;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202626247	202626247	NC_000002.11:g.202626247C>T	ClinGen:CA340251,OMIM:606352.0012	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.469T>G (p.Cys157Gly)	57679	ALS2	Uncertain significance	rs1693768160	RCV001347186;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626248	202626248	202626248	-
NM_020919.4(ALS2):c.468G>A (p.Ala156=)	57679	ALS2	Likely benign	rs145506395	RCV000517340\|RCV002060230;	N	MedGen:CN169374\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626249	202626249	NC_000002.11:g.202626249C>T	ClinGen:CA2058647	CN169374 not specified;
NM_020919.4(ALS2):c.409G>A (p.Val137Ile)	57679	ALS2	Uncertain significance	-1	RCV002785387;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626308	202626308	NC_000002.11:g.202626308C>T	-
NM_020919.4(ALS2):c.405T>C (p.Asn135=)	57679	ALS2	Likely benign	-1	RCV002079249;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626312	202626312	202626312	-
NM_020919.4(ALS2):c.396G>A (p.Pro132=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs374978798	RCV001142052\|RCV001142051\|RCV002539027;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626321	202626321	2:g.202626321C>T	-
NM_020919.4(ALS2):c.395C>T (p.Pro132Leu)	57679	ALS2	Uncertain significance	rs41308810	RCV001142053\|RCV001142054\|RCV001246012;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626322	202626322	2:g.202626322G>A	-
NM_020919.4(ALS2):c.367T>C (p.Cys123Arg)	57679	ALS2	Uncertain significance	rs1429775734	RCV001331156\|RCV001064572;	N	MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626350	202626350	2:g.202626350A>G	-
NM_020919.4(ALS2):c.366G>A (p.Gln122=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs775483404	RCV000866239\|RCV001142055\|RCV001142056\|RCV001847066;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202626351	202626351	2:g.202626351C>T	-
NM_020919.4(ALS2):c.356CTG[1] (p.Ala120del)	57679	ALS2	Uncertain significance	-1	RCV003023034;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626356	202626358	NC_000002.11:g.202626356CAG[1]	-
NM_020919.4(ALS2):c.358G>T (p.Ala120Ser)	57679	ALS2	Conflicting interpretations of pathogenicity	rs202084736	RCV000640992\|RCV002544659;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202626359	202626359	NC_000002.11:g.202626359C>A	ClinGen:CA2058662	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.347G>A (p.Gly116Glu)	57679	ALS2	Pathogenic	-1	RCV002259428;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626370	202626370	202626370	-
NM_020919.4(ALS2):c.339C>T (p.Tyr113=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs370824570	RCV001137293\|RCV001142057\|RCV001444397;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626378	202626378	2:g.202626378G>A	-
NM_020919.4(ALS2):c.336G>A (p.Ala112_Tyr113=)	57679	ALS2	Likely benign	-1	RCV003060612;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626381	202626381	NC_000002.11:g.202626381C>T	-
NM_020919.4(ALS2):c.334G>A (p.Ala112Thr)	57679	ALS2	Uncertain significance	-1	RCV001903904;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626383	202626383	202626383	-
NM_020919.4(ALS2):c.333C>T (p.Val111=)	57679	ALS2	Likely benign	-1	RCV002119242;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626384	202626384	202626384	-
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)	57679	ALS2	Conflicting interpretations of pathogenicity	rs61745503	RCV001089250\|RCV001137294\|RCV001137295\|RCV001644727\|RCV001849016;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169374\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202626386	202626386	NC_000002.11:g.202626386C>T	ClinGen:CA2058669	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.329G>T (p.Gly110Val)	57679	ALS2	Uncertain significance	rs758017229	RCV000797362;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626388	202626388	2:g.202626388C>A	-
NM_020919.4(ALS2):c.326del (p.Asn109fs)	57679	ALS2	Pathogenic	-1	RCV001391369;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626391	202626391	202626390	-
NM_020919.4(ALS2):c.326A>G (p.Asn109Ser)	57679	ALS2	Uncertain significance	-1	RCV001730191\|RCV002032704;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626391	202626391	202626391	-
NM_020919.4(ALS2):c.313G>A (p.Ala105Thr)	57679	ALS2	Uncertain significance	rs760204583	RCV001090659\|RCV002554816;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626404	202626404	2:g.202626404C>T	-
NM_020919.4(ALS2):c.300C>T (p.Ser100=)	57679	ALS2	Benign	-1	RCV002120330;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626417	202626417	202626417	-
NM_020919.4(ALS2):c.285T>G (p.Thr95=)	57679	ALS2	Likely benign	-1	RCV002115500;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626432	202626432	202626432	-
NM_020919.4(ALS2):c.280A>G (p.Ile94Val)	57679	ALS2	Benign	rs3219154	RCV000244654\|RCV000281155\|RCV000387223\|RCV000459871\|RCV001706359\|RCV001848039;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202626437	202626437	2:g.202626437T>C	ClinGen:CA2058676,UniProtKB:Q96Q42#VAR_036747	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.272A>G (p.Gln91Arg)	57679	ALS2	Uncertain significance	-1	RCV001906861;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626445	202626445	202626445	-
NM_020919.4(ALS2):c.269G>A (p.Gly90Glu)	57679	ALS2	Uncertain significance	rs374117082	RCV001219528;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626448	202626448	2:g.202626448C>T	-
NM_020919.4(ALS2):c.267T>C (p.Val89=)	57679	ALS2	Likely benign	-1	RCV001415726;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626450	202626450	202626450	-
NM_020919.4(ALS2):c.261C>T (p.Ala87_Leu88=)	57679	ALS2	Likely benign	-1	RCV003076427;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626456	202626456	NC_000002.11:g.202626456G>A	-
NM_020919.4(ALS2):c.256A>G (p.Asn86Asp)	57679	ALS2	Uncertain significance	-1	RCV002039509;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626461	202626461	202626461	-
NM_020919.4(ALS2):c.246C>T (p.Pro82=)	57679	ALS2	Likely benign	-1	RCV002191971;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626471	202626471	202626471	-
NM_020919.4(ALS2):c.236C>G (p.Pro79Arg)	57679	ALS2	Uncertain significance	-1	RCV002048753;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626481	202626481	202626481	-
NM_020919.4(ALS2):c.226G>A (p.Glu76Lys)	57679	ALS2	Uncertain significance	-1	RCV001969691\|RCV002473342;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202626491	202626491	202626491	-
NM_020919.4(ALS2):c.225G>A (p.Val75_Glu76=)	57679	ALS2	Likely benign	-1	RCV002612869;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626492	202626492	NC_000002.11:g.202626492C>T	-
NM_020919.4(ALS2):c.218G>A (p.Gly73Glu)	57679	ALS2	Uncertain significance	rs754181704	RCV000798218;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626499	202626499	2:g.202626499C>T	-
NM_020919.4(ALS2):c.215G>A (p.Ser72Asn)	57679	ALS2	Uncertain significance	-1	RCV001950682;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626502	202626502	202626502	-
NM_020919.4(ALS2):c.197G>A (p.Gly66Glu)	57679	ALS2	Uncertain significance	-1	RCV002695239;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626520	202626520	NC_000002.11:g.202626520C>T	-
NM_020919.4(ALS2):c.196G>A (p.Gly66Arg)	57679	ALS2	Uncertain significance	-1	RCV003034586;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626521	202626521	NC_000002.11:g.202626521C>T	-
NM_020919.4(ALS2):c.189C>T (p.Tyr63_Ser64=)	57679	ALS2	Likely benign	-1	RCV003007647;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626528	202626528	NC_000002.11:g.202626528G>A	-
NM_020919.4(ALS2):c.188A>G (p.Tyr63Cys)	57679	ALS2	Uncertain significance	-1	RCV003027423;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626529	202626529	NC_000002.11:g.202626529T>C	-
NM_020919.4(ALS2):c.183G>A (p.Glu61_Val62=)	57679	ALS2	Likely benign	-1	RCV002858517;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626534	202626534	NC_000002.11:g.202626534C>T	-
NM_020919.4(ALS2):c.176-8dup	57679	ALS2	Likely benign	-1	RCV002113353;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626548	202626549	202626548	-
NM_020919.4(ALS2):c.176-7C>T	57679	ALS2	Likely benign	-1	RCV003112396;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626548	202626548	NC_000002.11:g.202626548G>A	-
NM_020919.4(ALS2):c.176-10dup	57679	ALS2	Benign	-1	RCV002195350;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626550	202626551	202626550	-
NM_020919.4(ALS2):c.176-19T>A	57679	ALS2	Benign	-1	RCV002127308;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626560	202626560	202626560	-
NM_020919.4(ALS2):c.175+18G>A	57679	ALS2	Likely benign	-1	RCV002143740;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202631934	202631934	202631934	-
NM_020919.4(ALS2):c.169A>G (p.Thr57Ala)	57679	ALS2	Uncertain significance	-1	RCV001972991;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202631958	202631958	202631958	-
NM_020919.4(ALS2):c.162TCT[1] (p.Leu56del)	57679	ALS2	Uncertain significance	-1	RCV001886042;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202631960	202631962	202631959	-
NM_020919.4(ALS2):c.163C>T (p.Leu55Phe)	57679	ALS2	Uncertain significance	-1	RCV003072306;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202631964	202631964	NC_000002.11:g.202631964G>A	-
NM_020919.4(ALS2):c.158_160del (p.Gly53del)	57679	ALS2	Pathogenic	-1	RCV002259432;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202631967	202631969	202631966	-
NM_020919.4(ALS2):c.154C>T (p.His52Tyr)	57679	ALS2	Uncertain significance	rs1694137725	RCV001202441;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202631973	202631973	2:g.202631973G>A	-
NM_020919.4(ALS2):c.144C>A (p.Leu48_Gly49=)	57679	ALS2	Likely benign	-1	RCV003113415;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202631983	202631983	NC_000002.11:g.202631983G>T	-
NM_020919.4(ALS2):c.138A>G (p.Ala46=)	57679	ALS2	Likely benign	-1	RCV002103033;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202631989	202631989	202631989	-
NM_020919.4(ALS2):c.131T>C (p.Leu44Ser)	57679	ALS2	Uncertain significance	-1	RCV002756137;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202631996	202631996	NC_000002.11:g.202631996A>G	-
NM_020919.4(ALS2):c.116G>A (p.Gly39Glu)	57679	ALS2	Uncertain significance	-1	RCV002051336;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202632011	202632011	202632011	-
NM_020919.4(ALS2):c.111C>G (p.Gly37=)	57679	ALS2	Uncertain significance	-1	RCV001982155;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202632016	202632016	202632016	-
NM_020919.4(ALS2):c.92C>T (p.Thr31Ile)	57679	ALS2	Uncertain significance	-1	RCV003115028;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202632035	202632035	NC_000002.11:g.202632035G>A	-
NM_020919.4(ALS2):c.88A>G (p.Ile30Val)	57679	ALS2	Conflicting interpretations of pathogenicity	rs199947290	RCV001040936\|RCV001311979\|RCV002551481;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	2	202632039	202632039	2:g.202632039T>C	-
NM_020919.4(ALS2):c.77G>C (p.Gly26Ala)	57679	ALS2	Uncertain significance	-1	RCV002002774;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202632050	202632050	202632050	-
NM_020919.4(ALS2):c.71A>G (p.Gln24Arg)	57679	ALS2	Uncertain significance	-1	RCV001958373;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202632056	202632056	202632056	-
NM_020919.4(ALS2):c.62A>G (p.His21Arg)	57679	ALS2	Uncertain significance	-1	RCV002022630;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202632065	202632065	202632065	-
NM_020919.4(ALS2):c.60C>G (p.Val20_His21=)	57679	ALS2	Likely benign	-1	RCV002578640;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202632067	202632067	NC_000002.11:g.202632067G>C	-
NM_020919.4(ALS2):c.37G>A (p.Gly13Arg)	57679	ALS2	Uncertain significance	rs367871772	RCV001307090;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202632090	202632090	202632090	-
NM_020919.4(ALS2):c.35A>G (p.Glu12Gly)	57679	ALS2	Uncertain significance	-1	RCV001954535;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202632092	202632092	202632092	-
NM_020919.4(ALS2):c.21-15T>C	57679	ALS2	Likely benign	-1	RCV002592303;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202632121	202632121	NC_000002.11:g.202632121A>G	-
NM_020919.4(ALS2):c.20+7T>C	57679	ALS2	Benign	rs3219153	RCV000243518\|RCV000302011\|RCV000399186\|RCV001509594\|RCV001610719\|RCV001548882;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604	2	202633582	202633582	2:g.202633582A>G	ClinGen:CA2058752	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.18A>G (p.Arg6=)	57679	ALS2	Likely benign	-1	RCV002210632;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202633591	202633591	202633591	-
NC_000002.11:g.(?_202501451)_(202633608_?)del	-1	TMEM237;ALS2;MPP4	Pathogenic	-1	RCV003105409\|RCV003122416;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0013745,MedGen:C3280766,OMIM:614424	2	202501451	202633608		-

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